DAFTAR PUSTAKA. 1. Cappelini MD, Cohen A, Eleftheriou A, Piga A, Porter J, Taher A, :

Size: px
Start display at page:

Download "DAFTAR PUSTAKA. 1. Cappelini MD, Cohen A, Eleftheriou A, Piga A, Porter J, Taher A, :"

Transcription

1 DAFTAR PUSTAKA 1. Cappelini MD, Cohen A, Eleftheriou A, Piga A, Porter J, Taher A, : Thalassemia International Federation; 2008, 2 nd ed. Cyprus, Weatherall, DJ. The Thalassemias. Williams hematology. 6th edition. Mc-Graw Hill,November Weatherall, DJ, Clegg Jb. Thalassemia Syndromes. 4rd edition.blackwell science.uk Pignatti CB, Galanello R.Thalassemias and Related disorders: Quantitative Disorderd of Hemoglobin Synthesis. In: Wintrobe s Clinical Hematology. Lipincot Williams & Wilkins. Philadelphia.2009;C 39:p Cavalli-Sforza, L.L.,Menozzi, P. and Piazza A The History and Geography of Human Genes. Princeton University Press. Princeton, New Jersey. 2: I Wahidiyat, PA Wahidiyat. Genetic problems at present and their challenges in future: Thalassemia as a model [serial online] 2006 [cited 2010 Nov 22] Available from: Pediatrica Indonesia 7. Ganie RA. Studi DNA thalassemia α Southeast Asian type di Medan [Disertasi Doktor bidang Ilmu Kedokteran ]. Medan: ; 2003.

2 8. Langlois S, Ford JC, Chitayat D. Carrier Screening for Thalassemia and Hemoglobinopathies in canada. Joint SOGC-CCMG Clinical Practice Guidline 2008, 218: Lanni F. Heterogenitas molekular Genaglobin-β di Indonesia, kaitannya dengan pola penyebaran thalassemia-β serta afinitas genetik antar populasi di Indonesia [Disertasi Doktor bidang Ilmu Kedokteran Universitas Gajah Mada]. Yogyakarta: Universitas Gajah Mada; World Health Organization/Thalassemia International Federation. Prosiding dari: Joint meeting on the prevention and control of haemoglobinopathies. Nicosia-cyprus: World Health Organization/Thalassemia International Federation, 1994: Eleftheriou A. What is the thalassemia. Thalassaemia International Federation. Nicosia-Cyprus, Taher A, Vichnsky E, Musallam K, Domenica M, Cappellini, Viprakasit V, Guideline For The Management Of Non Transfusion Dependent Thalassemia (NTDT) 13. Nemeth E. Hepcidin in Β Thalassemia [serial online] [ cited 2010 Jul 23]. Available from : Gene Review. 14. Nemeth, E Targetting the Hepcidin-Ferroportin Axis in the Diagnosis and Treatment of Anemias Advances in Hemtology 15. Zimmermann M.B, dkk. Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or b-thalassemia and in

3 coumpound heterozygotes for HbE/b-thalassemia. American Journal of Clinical Nutrition 16. Galanello R and Origa R. Beta-Thalassemia. Orphanet Journal Of Rare Diseases Kattamis A,dkk. The effects of rytropoetic activity and iron burden on hepcidin expression in patients with thalassemia major.2006 [cited 2011 agt 3]. 18. Rachmilewitz EA, and Giardina PJ. How I Treat Thalassemia, in:how I Treat. Blood, 2011; Collins, F.S. and Weissman, S.M The Molecular Genetics of Human Hemoglobin.Prog. Nucleic Acid Res. Mol.Biol. 31: Galanello R and Origa R. Beta-Thalassemia. Orphanet Journal Of Rare Diseases Srivorakun H, Fucharoen G, Changtrakul Y, Komwilaisak P, n Fucharoen S. Thalassemia and hemoglobinopathies in Southeast 22. Wirawan R. Analisa Hemoglobin dengan cara konvensional dan mikrokapiler elektroforesis. Jakarta. Balai Penerbit FKUI, 2011;h Bain BJ. Haemoglobin and the genetic of haemoglobin synthesis, in: Haemoglobinopathy. Second Edition. Blackwell Publishing. 2006;p Bernard G.Forget and Ross C.Hardison. The Normal Structure and Regulation of Human Globin Gene Cluster, in: Disorders of

4 Hemoglobin. Genetics, Pathophysiology, and Clinical. Cambridge University Press. New York. 2009;p About Alpha Thalassemia. In: Hemoglobin Disorders Hemoglobinopathies. Thalassemia International Federation Ghodekar SR, Gramurohit ND, Kadam SS, and Thorat RM. Thalassemia: A Review. International Journal of Pharma research and Development-Online (IJPRD) Dimitris L,Leukopoulos. Haemoglobinophaties. Macmillan Plubisher Ltd Weatherall DJ. Fortnightly review: The Thalassemia. BMJ, 1977; Ltd Dessypris EN, Sawyer ST. Erythropoiesis. In: Wintrobes s Clinical Hematology, 12 nd ed. Lippincot Williams & Wilkins Philadelphia 2009: Wickrema A, Kee B. Molecular Basis of Hematopoiesis. Springer Science New York 2009 : Andrews NC. Iron Deficiency and Relared Disorders. In : Wintrobe s Clinical Hematology, 12 nd ed. Lippincot Williams & Wilkins Philadelphia 2009 : Hoffbrand AV, Catovsky D, Tuddenham EGD. Postgraduate th Hematology 5 ed. Blackwell Publishing Ltd Massachusetts 2005 : 24-25, 89-91

5 33. Srivorakun H, Fucharoen G, Changtrakul Y, Komwilaisak P, n Fucharoen S. Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system. Clinical Biochemistry. Published by Elsevier Inc. 2011; John M,Old. DNA Diagnosis of Hemoglobin Mutations. In:Hemoglobin Disorde Molecular and Protocols. Humana Press Inc. Totowa,NJ,2003,Vol 82; Elizabeth G. Genotype-phenotype Diversity of Beta-Thalassemia in malaysia: Treatment Options and Emerging Therapies. 36. Bain BJ. The α, β, δ dan γ Thalassaemias and related conditions, in: Hemoglobinopathy. Second Edition. Blackwell Publishing.2006;p: Rozenberg G. Haemoglobin Disrorders, in: Microscopic 3e Haematology a Practical Guide for The Laboratory. Elsevier. Australia. 2011;p: Rund D and Rachmilewitz E. Β-thalassemia. N ENGL J MED, 353; Chui DH, Cunningham MJ, Lou Hy, Wolf LC, Neufeld EJ, and Steinberg MH. Screening and counseling for Thalassemia. Blood 2006;vol 107.Number Long X, Fang J, Yao L, Xiao Q, Pan T. Correlation Analysis between Mean Corpuscular Hemoglobin and Mean Corpuscular Volume for Thalassemia Screening in Large Population. American Journal of Analytical Chemistry, 2014,5,

6 41. Eleftheriou A. What is the thalassemia. Thalassemia International Federation. Nicosia-Crprus, Pignatti CB, Galanello R. Thalassemia and related disorders: quantitative disorders of hemoglobin synthesis. Dalam: Greer JP, Foerster J, Rodgers GM, et al., editors. Wintrobe s clinical hematology. 12 nd ed. Philadelphia: Lippincott Williams & Wilkins; p Mosca A, Paleari R, Ivaldi G, Galanello R, dan Giordano PC. The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol 2009;62: Mais DD, Gulbranson RD, and Keren DF. The Range of Hemoglobin A2 in hemoglobin E Heterozygotes as Determined by Capillary Electrophoresis. Am J Clin Pathol 2009;132: Pardede, D.K.B Hepcidin : Perannya dalam pathogenesis dan implikasinya terhadap tatalaksana anemia pada penyakit kronis. 46. Krause, A., S. Neitz, H.J.Magert. et al, LEAP-1, a novel highly disulfide bonded human peptide, exhibits antimicrobial activity, FEBS Lett, 480: Ganz, T Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood, Perdana Y W, Jacobus J D. Hepcidin dan Anemia Defisiensi Besi 49. Jones, E.,Pasricha,S.R.,et al. Hepcidin is suppressed by erytroiesis in hemoglobin E β-thalassemia and β-thalassemia trait.blood. 2015

7 50. Testa U. Protein of Iron metabolism. Florida: CRC Press; p Biovendor Research and Diagnostic product. Version Worwood M, May A. Iron Deficiency Anemia and Iron Overload. In Dacie & Lewis Practical Hematology 11 th ed. Elsevier Churchill Livingstone 2011: Atmakusuma D. Thalassemia: Manifestasi Klinis, Pendekatan diagnosis, dan Thalassemia Intermedia. Dalam: Ilmu Penyakit Dalam. Internal Publishing. Jilid II, Edisi V, Bab 220; Fucharoen S, Winichagoon P.in: New updating into hemoglobinopathies. International Journal of laboratory Hematology. Blackwell Publishing Ltd. 2012: Giordano PC. Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls. International Journal of laboratory Hematology. Blackwell Publishing Ltd. 2012; Macdougall, I.C., J. Malyazko, R.C.Hider, and S.S. Bansal Current Status of themeasurement of Blodd Hepcidin level in Chronic Kidney Disease. Clin J Am Soc neprol, 5: Bain.J.B, Bates.I, Laffan.A.M, Lewis.S.M, Dacie and Lewis Practical Haematology: Eleventh Edition D Angelo Guide, Role of Hepcidin in The Patofisiology and Diagnosis of Anemia, Blood Research, 2013; volume 48, no: 1

Thalassemias:general aspects and molecular pathology

Thalassemias:general aspects and molecular pathology Thalassemias:general aspects and molecular pathology Prof. Renzo Galanello Pediatric Clinic 2 University of Cagliari Ospedale Regionale Microcitemie-ASL8 HEMOGLOBINOPATHIES CLASSIFICATION Structurally

More information

Thalassaemia and Abnormal Haemoglobins in Pregnancy

Thalassaemia and Abnormal Haemoglobins in Pregnancy 1. Purpose Thalassaemias and abnormal haemoglobins are detected in approximately 4% of patients of reproductive age attending the Women's. In almost half of these cases, the abnormality is not evident

More information

The Beats of Natural Sciences Issue 3-4 (September-December) Vol. 3 (2016)

The Beats of Natural Sciences Issue 3-4 (September-December) Vol. 3 (2016) Frequency of β (Beta Thalassaemia) Trait and Haemaglobin E (HbE) Trait: Case Study in a Thalassaemia Carrier Detection Camp in Gurudas College, West Bengal, India Mitu De Department of Botany, Gurudas

More information

Report of Beta Thalassemia in Newar Ethnicity

Report of Beta Thalassemia in Newar Ethnicity Report of Beta Thalassemia in Newar Ethnicity Rajendra Dev Bhatt 1*, Surendra Koju 2, Prabodh Risal 1 Affiliations: 1 Department of Clinical Biochemistry, Dhulikhel Hospital, Kathmandu University Hospital

More information

VALIDATION OF OSMOTIC FRAGILITY TEST AND DICHLOROPHENOL INDOPHENOL PRECIPITATION TEST FOR SCREENING OF THALASSEMIA AND Hb E

VALIDATION OF OSMOTIC FRAGILITY TEST AND DICHLOROPHENOL INDOPHENOL PRECIPITATION TEST FOR SCREENING OF THALASSEMIA AND Hb E VALIDATION OF OSMOTIC FRAGILITY TEST AND DICHLOROPHENOL INDOPHENOL PRECIPITATION TEST FOR SCREENING OF THALASSEMIA AND Hb E Siripakorn Sangkitporn 1, Somchai Sangkitporn 1, Areerat Sangnoi 1, Ornchira

More information

When do you have to perform the molecular biology in the hemoglobinopathies diagnosis

When do you have to perform the molecular biology in the hemoglobinopathies diagnosis When do you have to perform the molecular biology in the hemoglobinopathies diagnosis Maria Domenica Cappellini MD, FRCP;FACP Fondazione Ca Granda Policlinico IRCCS University of Milan Disclosure Member

More information

Hematologic Features of Alpha Thalassemia Carriers

Hematologic Features of Alpha Thalassemia Carriers IJMCM Summer 2012, Vol 1, No 3 Original Article Hematologic Features of Alpha Thalassemia Carriers Haleh Akhavan-Niaki 1,2, Reza Youssefi Kamangari 2, Ali Banihashemi 2, Vahid Kholghi Oskooei 1, Mandana

More information

Prevalence of Thalassemia in Patients With Microcytosis Referred for Hemoglobinopathy Investigation in Ontario A Prospective Cohort Study

Prevalence of Thalassemia in Patients With Microcytosis Referred for Hemoglobinopathy Investigation in Ontario A Prospective Cohort Study Hematopathology / PREVALENCE OF THALASSEMIA IN ONTARIO Prevalence of Thalassemia in Patients With Microcytosis Referred for Hemoglobinopathy Investigation in Ontario A Prospective Cohort Study John D.

More information

Original Paper. Inherited Haemoglobin Disorders Among Apparently Healthy Individuals- An Analysis of 105 Cases. Abstract

Original Paper. Inherited Haemoglobin Disorders Among Apparently Healthy Individuals- An Analysis of 105 Cases. Abstract Original Paper Inherited Haemoglobin Disorders Among Apparently Healthy Individuals- An Analysis of 105 Cases Salsabil MA 1, Islam M 2, Jahan D 3, Khan MA 4 Abstract Introduction: Inherited hemoglobin

More information

by Capillary Electrophoresis for Diagnosing β-thalassemia/ HbE Disease in Patients With Low HbF

by Capillary Electrophoresis for Diagnosing β-thalassemia/ HbE Disease in Patients With Low HbF Measurement of HbA by Capillary Electrophoresis for Diagnosing β-thalassemia/ HbE Disease in Patients With Low HbF Watcharee Prasing, BSc, 1 Sakorn Pornprasert, PhD 1 * Lab Med Summer 1;5:-3 DOI: 1.139/LMGD9HES3DZRBZM

More information

MICO Maggio 2016 Laboratory Diagnosis of Thalassemia

MICO Maggio 2016 Laboratory Diagnosis of Thalassemia MICO 11-15 Maggio 2016 Laboratory Diagnosis of Thalassemia Maria Domenica Cappellini Fondazione Ca Granda Policlinico IRCCS University of Milan Disclosure Member of Advisory Board: - Novartis - Genzyme/Sanofi

More information

Laboratory diagnosis of thalassemia

Laboratory diagnosis of thalassemia International Journal of Laboratory Hematology REVIEW ARTICLE The Official journal of the International Society for Laboratory Hematology INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY Laboratory diagnosis

More information

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations Clin Genet 2015: 88: 56 61 Printed in Singapore. All rights reserved Short Report 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd CLINICAL GENETICS doi: 10.1111/cge.12443 Changes in hematological

More information

Utility of hemoglobin electrophoresis to detect hemoglobinopathies in adults not presenting with hematological problems

Utility of hemoglobin electrophoresis to detect hemoglobinopathies in adults not presenting with hematological problems Original Research Article Utility of hemoglobin electrophoresis to detect hemoglobinopathies in adults not presenting with hematological problems G. J. Vani Padmaja 1*, S. S. S. Quadri 1, O. Shravan Kumar

More information

Diagnostic difficulties in prevention and control program for thalassemia in Thailand: atypical thalassemia carriers

Diagnostic difficulties in prevention and control program for thalassemia in Thailand: atypical thalassemia carriers Diagnostic difficulties in prevention and control program for thalassemia in Thailand: atypical thalassemia carriers Pranee Winichagoon Fucharoen Thalassemia Research Center Institute of Molecular Biosciences

More information

Prevalence and distribution of thalassemia trait screening

Prevalence and distribution of thalassemia trait screening J Med Sci, Volume 49, No. 3, 2017 July: 106-113 Prevalence and distribution of thalassemia trait screening Nailil Husna, Imanuel Sanka, Ahmad Al Arif, Chintya Putri, Elory Leonard, Niken Satuti Nur Handayani*

More information

Iron overload in transfusion-dependent survivors of hemoglobin Bart s hydrops fetalis

Iron overload in transfusion-dependent survivors of hemoglobin Bart s hydrops fetalis Published Ahead of Print on January 25, 2018, as doi:10.3324/haematol.2017.178368. Copyright 2018 Ferrata Storti Foundation. Iron overload in transfusion-dependent survivors of hemoglobin Bart s hydrops

More information

Diagnostic Significance of Haemogram Parameters and RBC Indices in Haemoglobin E Trait

Diagnostic Significance of Haemogram Parameters and RBC Indices in Haemoglobin E Trait ORIGINAL ARTICLE Diagnostic Significance of Haemogram Parameters and RBC Indices in Haemoglobin E Trait *T Khondaker 1, AKJ Ahmed 2, SK Amin 3 ABSTRACT Background: Hemoglobin E disease are the most common

More information

Predictors for Transfusion Requirement in Haemoglobin E-β Thalassemia

Predictors for Transfusion Requirement in Haemoglobin E-β Thalassemia Int J Med. Public Health. 2017; 7(1): 28-32 A Multifaceted Peer Reviewed Journal in the field of Medicine and Public Health www.ijmedph.org www.journalonweb.com/ijmedph Original Article Predictors for

More information

S-Beta Thalassemia leading to avascular necrosis of left hip joint in a young male - A rare case report

S-Beta Thalassemia leading to avascular necrosis of left hip joint in a young male - A rare case report Case Report S-Beta Thalassemia leading to avascular necrosis of left hip joint in a young male - A rare case report Shubhi Saxena 1*, Nishant Saxena 1, R.M Jaiswal 2 1 PG Student, 2 Associate Professor,

More information

Routine screening for a-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart s

Routine screening for a-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart s Original Article Routine screening for a-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart s J Med Screen 2014, Vol. 21(3) 120 125! The Author(s) 2014 Reprints and permissions:

More information

A Reliable Screening Protocol for Thalassemia and Hemoglobinopathies in Pregnancy An Alternative Approach to Electronic Blood Cell Counting

A Reliable Screening Protocol for Thalassemia and Hemoglobinopathies in Pregnancy An Alternative Approach to Electronic Blood Cell Counting Hematopathology / SCREENING FOR THALASSEMIA AND HEMOGLOBINOPATHIES IN PREGNANCY A Reliable Screening Protocol for Thalassemia and Hemoglobinopathies in Pregnancy An Alternative Approach to Electronic Blood

More information

Genetic Testing for α-thalassemia

Genetic Testing for α-thalassemia Medical Policy Manual Genetic Testing, Policy No. 52 Genetic Testing for α-thalassemia Next Review: January 2019 Last Review: January 2018 Effective: February 1, 2018 IMPORTANT REMINDER Medical Policies

More information

Research Article Pattern of β-thalassemia and Other Haemoglobinopathies: A Cross-Sectional Study in Bangladesh

Research Article Pattern of β-thalassemia and Other Haemoglobinopathies: A Cross-Sectional Study in Bangladesh International Scholarly Research Network ISRN Hematology Volume 2012, Article ID 659191, 6 pages doi:10.5402/2012/659191 Research Article Pattern of β-thalassemia and Other Haemoglobinopathies: A Cross-Sectional

More information

Epidemiological Study among Thalassemia Intermedia Pediatric Patients

Epidemiological Study among Thalassemia Intermedia Pediatric Patients Med. J. Cairo Univ., Vol. 78, No. 2, December 651-655, 2010 www.medicaljournalofcairouniversity.com Epidemiological Study among Thalassemia Intermedia Pediatric Patients NERMEEN KADDAH, M.D.; KHALED SALAMA,

More information

DAFTAR PUSTAKA. 1. Riset Kesehatan Dasar, Badan Penelitian dan Pengembangan. Kesehatan Kementrian Kesehatan RI,2013.

DAFTAR PUSTAKA. 1. Riset Kesehatan Dasar, Badan Penelitian dan Pengembangan. Kesehatan Kementrian Kesehatan RI,2013. DAFTAR PUSTAKA 1. Riset Kesehatan Dasar, Badan Penelitian dan Pengembangan Kesehatan Kementrian Kesehatan RI,2013. 2. Kementrian kesehatan Republik Indonesia prosiding dari: Tahun 2030 prevalensi diabetes

More information

Hemoglobinopathy and thalassemia detection

Hemoglobinopathy and thalassemia detection Hemoglobinopathy and thalassemia detection Traditional methods and a novel method capillary electrophoresis technology By Aigars Brants, PhD Published October 2011 In humans, two pairs of unlike globin

More information

HAEMATOLOGICAL RARE DISEASES: from genetic counselling - through bench - to bed

HAEMATOLOGICAL RARE DISEASES: from genetic counselling - through bench - to bed Fondazione THEORETICAL AND PRACTICAL TRAINING IN HAEMATOLOGICAL RARE DISEASES: from genetic counselling - through bench - to bed 15-23 September, 2017 CAMPUS OF HEMATOLOGY Franco e Piera Cutino A.O.R.

More information

Screening for Intermediate and Severe Forms of Thalassaemia in Discarded Red Blood Cells: Optimization and Feasibility

Screening for Intermediate and Severe Forms of Thalassaemia in Discarded Red Blood Cells: Optimization and Feasibility ORIGINAL ARTICLE Screening for Intermediate and Severe Forms of Thalassaemia in Discarded Red Blood Cells: Optimization and Feasibility Elizabeth George, FRCPA*, Mei I Lai, Phd*, Lai Kuan Teh, MSc*, Rajesh

More information

A clinical audit of thalassaemia management at the Lady Ridgeway Hospital for Children, Colombo

A clinical audit of thalassaemia management at the Lady Ridgeway Hospital for Children, Colombo Original Articles A clinical audit of thalassaemia management at the Lady Ridgeway Hospital for Children, Colombo P S Samarakoon 1, A P Wijesuriya 2 Sri Lanka Journal of Child Health, 2011; 40: 48-53 (Key

More information

MOLECULAR BASIS OF THALASSEMIA IN SLOVENIA

MOLECULAR BASIS OF THALASSEMIA IN SLOVENIA MOLECULAR BASIS OF THALASSEMIA IN SLOVENIA Dijana Plaseska-Karanfilska, MD, PhD Research Centre for Genetic Engineering and Biotechnology Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Skopje,

More information

The Prevalence and Heterogeneity of Beta Thalassemia Mutations in The Western Maharashtra Population: A Hospital Based Study

The Prevalence and Heterogeneity of Beta Thalassemia Mutations in The Western Maharashtra Population: A Hospital Based Study Kamla-Raj 2001 IJHG 1(3): 219-223 (2001) The Prevalence and Heterogeneity of Beta Thalassemia Mutations in The Western Maharashtra Population: A Hospital Based Study S.S. Ambekar, M.A. Phadke, D.N. Balpande,

More information

Evaluation of the Molecular basis of KLF1 Gene in Iranian Thalassemia individuals with borderline hemoglobin A2

Evaluation of the Molecular basis of KLF1 Gene in Iranian Thalassemia individuals with borderline hemoglobin A2 Advances in Bioresearch Adv. Biores., Vol 7 (5) September 2016: 11-15 2016 Society of Education, India Print ISSN 0976-4585; Online ISSN 2277-1573 Journal s URL:http://www.soeagra.com/abr.html CODEN: ABRDC3

More information

High Prevalence of Sickle Haemoglobin in Mehra Caste of District Betul, Madhya Pradesh

High Prevalence of Sickle Haemoglobin in Mehra Caste of District Betul, Madhya Pradesh High Prevalence of Sickle Haemoglobin in Mehra Caste of District Betul, Madhya Pradesh R.B. Gupta, Subhash Godbole, Rajiv Yadav, M.P.S.S. Singh, Ujwala Das, V.S. Gadge, Ashok Gupta, Anil Gwal, C.P. Vishwakarma

More information

The pros and cons of the fourth revision of thalassaemia screening programme in Iran

The pros and cons of the fourth revision of thalassaemia screening programme in Iran Original Article The pros and cons of the fourth revision of thalassaemia screening programme in Iran J Med Screen 2017, Vol. 24(1) 1 5! The Author(s) 2016 Reprints and permissions: sagepub.co.uk/journalspermissions.nav

More information

Anemia s. Troy Lund MSMS PhD MD

Anemia s. Troy Lund MSMS PhD MD Anemia s Troy Lund MSMS PhD MD lundx072@umn.edu Hemoglobinopathy/Anemia IOM take home points. 1. How do we identify the condtion? Smear, CBC Solubility Test (SCD) 2. How does it present clincally? 3. How

More information

In adults, the predominant Hb (HbA) molecule has four chains: two α and two β chains. In thalassemias, the synthesis of either the α or the β chains

In adults, the predominant Hb (HbA) molecule has four chains: two α and two β chains. In thalassemias, the synthesis of either the α or the β chains Thalassaemias Thalassemia Thalassemia is an inherited autosomal recessive blood disease. Associated with absence or reduction in a or b globin chains. Reduced synthesis of one of the globin chains can

More information

Counselling and prenatal diagnosis. Antonis Kattamis, Greece

Counselling and prenatal diagnosis. Antonis Kattamis, Greece Counselling and prenatal diagnosis Antonis Kattamis, Greece Epidemiology of Hemoglobinopathies 7% of world population carriers of hemoglobinopathies 500.000 newborns annually affected 300.000 : Thalassemias

More information

Some Observations on Haemoglobin A 2

Some Observations on Haemoglobin A 2 Some Observations on Haemoglobin A 2 Barbara J Bain St Mary s Hospital and Imperial College London Image from www.dsc.discovery.com Haemoglobin A 2 5 HBE1 HBG2 HBG1 HBD HBB LCRB ε G γ A γ ψβ δ β 3 5 LCRA

More information

Hematopathology / SCREENING FOR THE (-- SEA ) ALPHA 0 -THALASSEMIA DELETION

Hematopathology / SCREENING FOR THE (-- SEA ) ALPHA 0 -THALASSEMIA DELETION Hematopathology / SCREENING FOR THE (-- SEA ) ALPHA 0 -THALASSEMIA DELETION A Reliable Screening Test to Identify Adult Carriers of the (-- SEA ) alpha 0 -Thalassemia Deletion Detection of Embryonic zeta-globin

More information

1st International Working Group on Thalassemia:

1st International Working Group on Thalassemia: 1st International Working Group on Thalassemia: IS IT TIME TO REVISIT CLASSIFICATION OF THALASSEMIA SYNDROMES? CAMPUS OF HEMATOLOGY "Franco e Piera Cutino" A.O.R. "Villa Sofia - V. Cervello" Palermo ()

More information

Survival and Disease Complication of Thalassemia Major: Experience of 14 Years at King Abdulaziz University Hospital, Jeddah, KSA

Survival and Disease Complication of Thalassemia Major: Experience of 14 Years at King Abdulaziz University Hospital, Jeddah, KSA JKAU: Med. Sci., Vol. 17 No. 1, pp: 19-28 (2010 A.D. / 1431 A.H.) DOI: 10.4197/Med. 17-1.3 Survival and Disease Complication of Thalassemia Major: Experience of 14 Years at King Abdulaziz University Hospital,

More information

THALASSEMIA AND COMPREHENSIVE CARE

THALASSEMIA AND COMPREHENSIVE CARE 1 THALASSEMIA AND COMPREHENSIVE CARE Melanie Kirby MBBS, FRCP (C), Hospital for Sick Children, Toronto Associate Professor of Paediatrics, University of Toronto. Objectives 2 By the end of this presentation,

More information

Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience

Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience ORIGINAL ARTICLE Pediatrics http://dx.doi.org/10.3346/jkms.2013.28.11.1645 J Korean Med Sci 2013; 28: 1645-1649 Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience

More information

Spectrum of Haemoglobinopathies in a Suburb of Indore (India): A Two Year Study

Spectrum of Haemoglobinopathies in a Suburb of Indore (India): A Two Year Study Original 378 Article Indian Journal of Pathology: Research and Practice Volume 6 Number 2, April - June 2017 (Part 2) DOI: http://dx.doi.org/10.21088/ijprp.2278.148x.6217.6 Spectrum of Haemoglobinopathies

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Genetic Testing for Alpha Thalassemia File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_alpha_thalassemia 9/2013 7/2017 7/2018 7/2017 Description

More information

Beta Thalassemia Frequency in Bahrain: A Ten Year Study. Shaikha Salim Al-Arrayed, MB,ChB, DHCG, PhD*

Beta Thalassemia Frequency in Bahrain: A Ten Year Study. Shaikha Salim Al-Arrayed, MB,ChB, DHCG, PhD* Bahrain Medical Bulletin, Vol. 2, No. 2, June 200 Beta Thalassemia Frequency in Bahrain: A Ten Year Study Shaikha Salim Al-Arrayed, MB,ChB, DHCG, PhD* Background: Sickle-cell disease and Thalassanemia

More information

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis Genes Genet. Syst. (2009) 84, p. 67 71 Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis Jin Ai Mary Anne

More information

Research Article Clinical Features and Molecular Analysis of Hb H Disease in Taiwan

Research Article Clinical Features and Molecular Analysis of Hb H Disease in Taiwan BioMed Research International, Article ID 271070, 5 pages http://dx.doi.org/10.1155/2014/271070 Research Article Clinical Features and Molecular Analysis of Hb H Disease in Taiwan Yu-Hua Chao, 1,2,3 Kang-Hsi

More information

The Thalassemias in Clinical Practice. Ashutosh Lal, MD Director Comprehensive Thalassemia Program UCSF Benioff Children s Hospital Oakland

The Thalassemias in Clinical Practice. Ashutosh Lal, MD Director Comprehensive Thalassemia Program UCSF Benioff Children s Hospital Oakland The Thalassemias in Clinical Practice Ashutosh Lal, MD Director Comprehensive Thalassemia Program UCSF Benioff Children s Hospital Oakland Outline Thalassemia: definitions and pathophysiology Epidemiology

More information

Beta-thalassemia:clinical findings,molecular defects and genotype/phenotype relationships

Beta-thalassemia:clinical findings,molecular defects and genotype/phenotype relationships Beta-thalassemia:clinical findings,molecular defects and genotype/phenotype relationships Maria Domenica Cappellini Fondazione Ca Granda Policlinico IRCCS University of Milan Disclosure Member of Advisory

More information

Clinical, haematological, and genetic studies of type 2

Clinical, haematological, and genetic studies of type 2 Journal of Medical Genetics 1988, 25, 195-199 Clinical, haematological, and genetic studies of type 2 normal Hb A2 thalassaemia ANNA METAXOTOU-MAVROMATI, CHRISTOS KATTAMIS, LILIAN MATATHIA, MARIA TZETIS,

More information

Introduction: Is it time to revisit classification of Thalassemia Syndromes?

Introduction: Is it time to revisit classification of Thalassemia Syndromes? 1st International Working Group on Thalassemia: Introduction: Is it time to revisit classification of Thalassemia Syndromes? CAMPUS OF HEMATOLOGY "Franco e Piera Cutino" A.O.R. "Villa Sofia - V. Cervello"

More information

Haemoglobinophaties EBMT 2011 Data Manager session

Haemoglobinophaties EBMT 2011 Data Manager session Haemoglobinophaties EBMT 2011 Data Manager session Presentation plan Biological characteristics Clinical characteristics Transplant resuts What is different From transplant in malignancies Between Thalassemia

More information

Pitfalls in the premarital testing for thalassaemia

Pitfalls in the premarital testing for thalassaemia Pitfalls in the premarital testing for thalassaemia Dr. Riad Amer MB ChB, MSc, FRCP, FRCPath, JBH Assistant Professor of Medicine Al Najah University Consultant Haematologist Case 1 Husband and Wife are

More information

Management of Thalassaemia

Management of Thalassaemia Current Practice Management of Thalassaemia *Sachith Mettananda 1 Sri Lanka Journal of Child Health, 2018; 47(2): 159-165 DOI: http://dx.doi.org/10.4038/sljch.v47i2.8484 (Key words: Thalassaemia, management)

More information

International Journal of Drug Research and Technology

International Journal of Drug Research and Technology Int. J. Drug Res. Tech. 2012, Vol. 2 (7), 472-478 ISSN 2277-1506 International Journal of Drug Research and Technology Available online at http://www.ijdrt.com Original Research Paper SCREENING, ANALYSIS

More information

Medical Policy. MP Genetic Testing for α-thalassemia. Related Policies Preimplantation Genetic Testing

Medical Policy. MP Genetic Testing for α-thalassemia. Related Policies Preimplantation Genetic Testing Medical Policy BCBSA Ref. Policy: 2.04.104 Last Review: 02/26/2018 Effective Date: 02/26/2018 Section: Medicine Related Policies 4.02.05 Preimplantation Genetic Testing DISCLAIMER Our medical policies

More information

PREVALENCE AND CHARACTERIZATION OF THALASSEMIA AMONG MIGRANT WORKERS FROM CAMBODIA, LAO PDR AND MYANMAR IN THAILAND

PREVALENCE AND CHARACTERIZATION OF THALASSEMIA AMONG MIGRANT WORKERS FROM CAMBODIA, LAO PDR AND MYANMAR IN THAILAND PREVALENCE AND CHARACTERIZATION OF THALASSEMIA AMONG MIGRANT WORKERS FROM CAMBODIA, LAO PDR AND MYANMAR IN THAILAND Jitsuda Buakhao 1, Pornnapa Khumpun 2, Pranee Winichagoon 2, Suthat Fucharoen 2 and Kittiphong

More information

Guideline developed by Shelley Crary, MD, MS,* in collaboration with the ANGELS team. Last reviewed by Shelley Crary, MD, MS, January 19, 2017.

Guideline developed by Shelley Crary, MD, MS,* in collaboration with the ANGELS team. Last reviewed by Shelley Crary, MD, MS, January 19, 2017. Microcytic Anemia Guideline developed by Shelley Crary, MD, MS,* in collaboration with the ANGELS team. Last reviewed by Shelley Crary, MD, MS, January 19, 2017. Dr. Crary is a member of the hemophilia

More information

db-thalassemia Patients With Homozygous Xmn-1 Polymorphism That Are Characterized By A Milder Phenotype

db-thalassemia Patients With Homozygous Xmn-1 Polymorphism That Are Characterized By A Milder Phenotype ISPUB.COM The Internet Journal of Hematology Volume 7 Number 2 db-thalassemia Patients With Homozygous Xmn-1 Polymorphism That Are Characterized By A Milder S Ashraf Citation S Ashraf. db-thalassemia Patients

More information

Detection Of Abnormal Haemoglobin Variants By HPLC Method

Detection Of Abnormal Haemoglobin Variants By HPLC Method Detection Of Abnormal Haemoglobin Variants By HPLC Method Nilanjan Bhattacharya Institute of Hematology and Transfusion Medicine (IHTM), Kolkata, West Bengal Abstract: Hereditary hemoglobinopathies currently

More information

Epidemiology, Care and Prevention of Hemoglobinopathies

Epidemiology, Care and Prevention of Hemoglobinopathies Epidemiology, Care and Prevention of Hemoglobinopathies Nasir Al-Allawi MBChB, PhD. Professor of Hematology College of Medicine University of Dohuk, IRAQ From Research to Practice Training Course in Sexual

More information

1st International Working Group on Thalassemia:

1st International Working Group on Thalassemia: 1st International Working Group on Thalassemia: IS IT TIME TO REVISIT CLASSIFICATION OF THALASSEMIA SYNDROMES? CAMPUS OF HEMATOLOGY "Franco e Piera Cutino" A.O.R. "Villa Sofia - V. Cervello" Palermo ()

More information

BRITISH BIOMEDICAL BULLETIN

BRITISH BIOMEDICAL BULLETIN Journal Home Page www.bbbulletin.org BRITISH BIOMEDICAL BULLETIN Original A Long Term Screening of Iranian Populations with Thalassemia and Hemoglobinopathies Soudabeh Hosseini 1,2, Ebrahim Kalantar 3,2

More information

HPLC profile of sickle cell disease in central India

HPLC profile of sickle cell disease in central India Original Research Article HPLC profile of sickle cell disease in central India Shweta P. Bijwe * Department of Pathology, IGGMC, Nagpur, Maharashtra, India * Corresponding author email: dr.shwetabijwe@gmail.com

More information

Haemoglobin Lepore in a Malay family: a case report

Haemoglobin Lepore in a Malay family: a case report Malaysian J Pathol 2005; 27(1) : 33 37 HAEMOGLOBIN LEPORE CASE REPORT Haemoglobin Lepore in a Malay family: a case report Josephine PASANGNA MPath, *Elizabeth GEORGE FRCPA, FRCPE and Menaka NAGARATNAM

More information

The Nucleated Red Blood Cell (NRBC) Count in Thalassaemia Syndromes Paolo Danise and Giovanni Amendola

The Nucleated Red Blood Cell (NRBC) Count in Thalassaemia Syndromes Paolo Danise and Giovanni Amendola 7. The Nucleated Red The Nucleated Red Blood Cell (NRBC) Count in Thalassaemia Syndromes Paolo Danise and Giovanni Amendola Introduction The purpose of this study was to evaluate the performance of the

More information

BLOOD RESEARCH ORIGINAL ARTICLE INTRODUCTION. Pakistan

BLOOD RESEARCH ORIGINAL ARTICLE INTRODUCTION. Pakistan BLOOD RESEARCH VOLUME 50 ㆍ NUMBER 1 March 2015 ORIGINAL ARTICLE Comparative analysis of cellulose acetate hemoglobin electrophoresis and high performance liquid chromatography for quantitative determination

More information

HEMATOLOGICAL AND MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA/HB TAK COMPOUND HETEROZYGOTE

HEMATOLOGICAL AND MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA/HB TAK COMPOUND HETEROZYGOTE HEMATOLOGICAL AND MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA/HB TAK COMPOUND HETEROZYGOTE Pimlak Charoenkwan, Pattra Thanarattanakorn, Siriporn Chaovaluksakul, Somjai Sittipreechacharn, Rattika Sae-Tang

More information

JMSCR Vol 06 Issue 01 Page January 2018

JMSCR Vol 06 Issue 01 Page January 2018 www.jmscr.igmpublication.org Impact Factor 5.84 Index Copernicus Value: 71.58 ISSN (e)-2347-176x ISSN (p) 2455-0450 DOI: https://dx.doi.org/10.18535/jmscr/v6i1.102 HPLC based evaluation of Haemoglobinopathies

More information

Journal of Medical Science & Technology

Journal of Medical Science & Technology Page82 Original Article Journal of Medical Science & Technology Open Access Screening for hemoglobinopathies among patients in a government hospital and health clinics in Perlis, Malaysia Chin Yuet Meng

More information

POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT VARIATIONS DISCLAIMER CODING INFORMATION REFERENCES POLICY HISTORY

POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT VARIATIONS DISCLAIMER CODING INFORMATION REFERENCES POLICY HISTORY Original Issue Date (Created): November 26, 2013 Most Recent Review Date (Revised): November 26, 2013 Effective Date: April 1, 2014 POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS

More information

Hemoglobinopathies Diagnosis and management

Hemoglobinopathies Diagnosis and management Hemoglobinopathies Diagnosis and management Morgan L. McLemore, M.D. Hematology/Leukemia Department of Hematology and Oncology Winship Cancer Institute at Emory University mlmclem@emory.edu Disclosures

More information

Expression of Hb β-t and Hb β-e genes in Eastern India Family studies

Expression of Hb β-t and Hb β-e genes in Eastern India Family studies J. Biosci., Vol. 3 Number 2, June 1981, pp. 191-196. Printed in India. Expression of Hb β-t and Hb β-e genes in Eastern India Family studies MANJU AJMANI, GEETA TALUKDER, ARCHANA SHARMA and D. K. BHATTACHARYA*

More information

Hormone related problems (Endocrinopathies and osteoporosis) Vincenzo de Sanctis Ferrara.

Hormone related problems (Endocrinopathies and osteoporosis) Vincenzo de Sanctis Ferrara. Hormone related problems (Endocrinopathies and osteoporosis) Vincenzo de Sanctis Ferrara vdesanctis@libero.it 6 th EUROPEAN SYMPOSIUM ON RARE ANAEMIAS 1 st Dutch-Belgian meeting for patients and health

More information

Research Article Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and Beta-Thalassemia

Research Article Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and Beta-Thalassemia Anemia Volume 2015, Article ID 793025, 7 pages http://dx.doi.org/10.1155/2015/793025 Research Article Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and

More information

Le Emoglobinopa4e. Le Anemie Congenite del Migrante. Maria Domenica Cappellini Fondazione Ca Granda Policlinico Università di Milano

Le Emoglobinopa4e. Le Anemie Congenite del Migrante. Maria Domenica Cappellini Fondazione Ca Granda Policlinico Università di Milano Le Anemie Congenite del Migrante Le Emoglobinopa4e Maria Domenica Cappellini Fondazione Ca Granda Policlinico Università di Milano Ravenna 25 marzo 2017 Emoglobinopatie Sindromi Talassemiche: - TDT - NTDT

More information

Presented at the 60th Annual Meeting of the American Society of Hematology (ASH); December 1 4, 2018; San Diego, CA, USA.

Presented at the 60th Annual Meeting of the American Society of Hematology (ASH); December 1 4, 2018; San Diego, CA, USA. The BELIEVE Trial: Results of a Phase 3, Randomized, Double-Blind, -Controlled Study of in Adult Beta-Thalassemia Patients Who Require Regular Red Blood Cell (RBC) Transfusions Maria Domenica Cappellini,

More information

Genetics of Thalassemia

Genetics of Thalassemia Genetics of Thalassemia Submitted by : Raya Samir Al- Hayaly Sura Zuhair Salih Saad Ghassan Al- Dulaimy Saad Farouq Kassir Sama Naal Salouha Zahraa Jasim Al- Aarajy Supervised by : Dr. Kawkab Adris Mahmod

More information

Unraveling Hemoglobinopathies with Capillary Electrophoresis

Unraveling Hemoglobinopathies with Capillary Electrophoresis Session Number 2002 Unraveling Hemoglobinopathies with Capillary Electrophoresis David F. Keren, M.D. Professor of Pathology Division Director, Clinical Pathology The University of Michigan dkeren@med.umich.edu

More information

A s one of inherited disorders of haemoglobin (Hb)

A s one of inherited disorders of haemoglobin (Hb) 517 ORIGINAL ARTICLE The prevalence and spectrum of a and b thalassaemia in Guangdong Province: implications for the future health burden and population screening X M Xu, Y Q Zhou, G X Luo, C Liao, M Zhou,

More information

Solubility tests and the peripheral blood film method for screening for sickle-cell disease: A cost benefit analysis

Solubility tests and the peripheral blood film method for screening for sickle-cell disease: A cost benefit analysis Solubility tests and the peripheral blood film method for screening for sickle-cell disease: A cost benefit analysis Andrew Livex Okwi, Michael Ocaido, Wilson Byarugaba, Christopher Magala Ndugwa, Arthur

More information

GENETIC FACTORS INFLUENCING HEMOGLOBIN

GENETIC FACTORS INFLUENCING HEMOGLOBIN Southeast Asian J Trop Med Public Health GENETIC FACTORS INFLUENCING HEMOGLOBIN F LEVEL IN β-thalassemia/hb E DISEASE Waraporn Ruangrai and Sumalee Jindadamrongwech Department of Pathology, Faculty of

More information

HEMOGLOBIN ELECTROPHORESIS DR ARASH ALGHASI SHAFA HOSPITAL-AHWAZ

HEMOGLOBIN ELECTROPHORESIS DR ARASH ALGHASI SHAFA HOSPITAL-AHWAZ HEMOGLOBIN ELECTROPHORESIS DR ARASH ALGHASI SHAFA HOSPITAL-AHWAZ Hemoglobin Hemoglobin (Hb), protein constituting 1/3 of the red blood cells Each red cell has 640 million molecules of Hb sites in the cells:

More information

Cigna Medical Coverage Policy

Cigna Medical Coverage Policy Cigna Medical Coverage Policy Subject Genetic Testing for Hemoglobinopathies Table of Contents Coverage Policy... 1 General Background... 2 Coding/Billing Information... 7 References... 8 Effective Date...

More information

Multidisciplinary care. Michael Angastiniotis

Multidisciplinary care. Michael Angastiniotis Multidisciplinary care Michael Angastiniotis Pathopysiology of β-thalassaemia Thalassaemia syndromes are inherited haemoglobin disorders caused by defective and imbalanced globin production Excess free

More information

USING RETICULOCYTE INDICES TO IDENTIFY α-thalassemia A PRELIMINARY REPORT

USING RETICULOCYTE INDICES TO IDENTIFY α-thalassemia A PRELIMINARY REPORT USING RETICULOCYTE INDICES TO IDENTIFY α-thalassemia A PRELIMINARY REPORT Suphan Soogarun 1, Jamsai Suwansaksri 2 and Viroj Wiwanitkit 3 1 Department of Clinical Microscopy, Faculty of Allied Health Sciences,Chulalongkorn

More information

Thalassemia Maria Luz Uy del Rosario, M.D.

Thalassemia Maria Luz Uy del Rosario, M.D. Thalassemia Maria Luz Uy del Rosario, M.D. Philippine Society of Hematology and Blood Transfusion Philippine Society of Pediatric Oncology What is Thalassemia Hereditary Hemoglobin disorder Hemolytic anemia

More information

Journal of Chemical and Pharmaceutical Research, 2015, 7(6): Research Article

Journal of Chemical and Pharmaceutical Research, 2015, 7(6): Research Article Available online www.jocpr.com Journal of Chemical and Pharmaceutical Research, 2015, 7(6):568-572 Research Article ISSN : 0975-7384 CODEN(USA) : JCPRC5 Early markers of renal dysfunction in Syrian beta

More information

General insights and current management of Thalassemia Intermedia. Maria Domenica Cappellini

General insights and current management of Thalassemia Intermedia. Maria Domenica Cappellini Palermo 16 Settembre 217 General insights and current management of Thalassemia Intermedia Maria Domenica Cappellini Rare Disease Center Dept of Internal Medicine Fondazione IRCCS Cà Granda Policlinico

More information

Thalassemias. Emanuela Veras, M.D. 01/08/2006

Thalassemias. Emanuela Veras, M.D. 01/08/2006 Thalassemias Emanuela Veras, M.D. 01/08/2006 Structure and Function of normal Hemoglobin molecules: 2/3 1/3 β: increases from 6 th week of fetal life to 12 months of age At birth: HbF: 75-90% HbA: 10-25%

More information

JMSCR Vol 04 Issue 12 Page December 2016

JMSCR Vol 04 Issue 12 Page December 2016 www.jmscr.igmpublication.org Impact Factor 5.244 Index Copernicus Value: 83.27 ISSN (e)-2347-176x ISSN (p) 2455-0450 DOI: https://dx.doi.org/10.18535/jmscr/v4i12.36 Correlation of Fetal Hemoglobin (F)

More information

Screening for haemoglobinopathies in pregnancy

Screening for haemoglobinopathies in pregnancy Policy Statement All Southern Health patients will receive clinical care that reflects best practice and is based on the best available evidence. Index of chapters within background 1. Prevalence of haemoglobinopathies

More information

Preface: Thalassemia Bernard G. Forget

Preface: Thalassemia Bernard G. Forget Thalassemia Preface: Thalassemia Bernard G. Forget xiii Thalassemia: An Overview of 50 Years of Clinical Research 1005 Vijay G. Sankaran and David G. Nathan The thalassemias are attributable to the defective

More information

Original Article Thyroid Function Assessment With Beta-Thalassemia Major Pak Armed Forces Med J 2016; 66(6):809-13

Original Article Thyroid Function Assessment With Beta-Thalassemia Major Pak Armed Forces Med J 2016; 66(6):809-13 Open Access Original Article Thyroid Function Assessment With Beta-Thalassemia Major Pak Armed Forces Med J 2016; 66(6):809-13 ASSESSMENT OF STATUS OF THYROID FUNCTIONS IN PATIENTS OF β THALASSEMIA MAJOR,

More information

HAEMOGLOBINOPATHIES. Editing file. References: 436 girls & boys slides 435 teamwork slides. Color code: Important. Extra.

HAEMOGLOBINOPATHIES. Editing file. References: 436 girls & boys slides 435 teamwork slides. Color code: Important. Extra. HAEMOGLOBINOPATHIES Objectives: normal structure and function of haemoglobin. how the globin components of haemoglobin change during development, and postnatally. the mechanisms by which the thalassaemias

More information

Prevalence of Beta Thalassaemia in Jenin Area in Palestine

Prevalence of Beta Thalassaemia in Jenin Area in Palestine American Journal of Medicine and Medical Sciences 214, 4(): 18-18 DOI: 1.2/j.ajmms.2144.8 Prevalence of Beta Thalassaemia in Jenin Area in Palestine Mohamed Siddig Mohamed Ali 1,*, Mahmood Haj Ali Salih

More information

CLINICAL AND LABORATORY PATTERNS OF HEREDITARY HAEMOLYTIC ANEMIAS IN CHILDREN FROM CENTRAL REGION OF ROMANIA

CLINICAL AND LABORATORY PATTERNS OF HEREDITARY HAEMOLYTIC ANEMIAS IN CHILDREN FROM CENTRAL REGION OF ROMANIA Bulletin of the Transilvania University of Braşov Series VI: Medical Sciences Vol. 6 (55) No. 2-2013 CLINICAL AND LABORATORY PATTERNS OF HEREDITARY HAEMOLYTIC ANEMIAS IN CHILDREN FROM CENTRAL REGION OF

More information

An overview of Thalassaemias and Complications

An overview of Thalassaemias and Complications An overview of Thalassaemias and Complications Haemoglobin Haemoglobin is the most abundant protein in blood, and exists as three main types in normal adults: HbA ( ) - 97% HbA 2 ( ) - 2.5% HbF ( ) - 0.5%

More information