Dr.Abdolreza Afrasiabi
|
|
- Jessica Paul
- 5 years ago
- Views:
Transcription
1
2 Dr.Abdolreza Afrasiabi Thalassemia & Heamophilia Genetic Reaserch Center Shiraz Medical University
3 Hemoglobin tetramer
4
5 Hemoglobin Structure % A 1 α 2 β % A 2 α 2 δ 2 2.5% A 1C α 2 (β-n-glucose) 3% F α 2 γ 2 <1% Gower-1 ζ 2 ε 2 0* Gower-2 α 2 ε 2 0* Portland ζ 2 γ 2 0* * Indicates early embryonic form not seen in adults
6 There are 3 main categories of inherited Hemoglobin abnormalities: Structural or qualitative: Genetic mutation involving amino acid deletions or substitution.(hemoglobinopathy). Quantitative: Production of one or more globin chains is reduced or absent (Thalassemia). (HPFH): Hereditary persistence of Fetal Hemoglobin. Complete or partial failure of γ globin to switch to β globin.
7 Heterogenous group of disorders due to an imbalance of α and β globin chain synthesis α thalssemia: α-globin chain production decreased β thalassemia: β globin chain production decreased Quantitative deficiency: 0 thalassemia: No β -globin chain is made β + thalassemia: decreased b-globin chain is made
8
9 Beta ( ) thalassemia: - The disease manifests itself when the switch from to chain synthesis occurs several months after birth - There may be a compensatory increase in and chain synthesis resulting in increased levels of Hb-F and A 2. - The genetic background of thalassemia is heterogenous and may be roughly divided into two types: 0 in which there is complete absence of chain production. This is common in the Mediterranean. + in which there is a partial block in chain synthesis. At least three different mutant genes are involved: +1 10% of normal chain synthesis occurs +2 50% of normal chain synthesis occurs +3 - > 50% of normal chain synthesis occurs
10 Lab findings include: Prepheral Smear - hypochromic, microcytic anemia - marked anisocytosis and poikilocytosis - schistocytes, ovalocytes, and target cells - basophilic stippling from chain precipitation - increased reticulocytes and nucleated RBCs chronic hemolysis leads to increased bilirubin and gallstones hemoglobin electrophoresis shows increased Hb-F, variable amounts of Hb A2, and no to very little A.
11 β-thalassemia minor
12
13
14
15 Solubility test (Sickledex): Test to identify HbS. HbS is relatively insoluble compared to other Hemoglobins. Add reducing agent HbS will precipitate forming and opaque solution compared with the clear pink solution seen in HbS is not present.
16
17
18
19
20 Alpha ( ) thalassemia The disease is manifested immediately at birth There are normally four alpha chains, so there is a great variety in the severity of the disease. At birth there are excess chains and later there are excess chains. These form stable, nonfunctional tetramers that precipitate as the RBCs age leading to decreased RBC survival. The disease is usually due to deletions of the gene and occasionally to a functionally abnormal gene.
21 I. Silent carrier state II. III. IV. Alpha thalassemia trait Hemoglobin H disease Hemoglobin H constant spring V. Homozygous constant spring VI. Hydrops fetalis
22 Lack of alpha protein is so small Generally causes no health problems Diagnosed when individuals has a child with Hb-H or alpha thalassemia trait Hb constant spring is an unusual form of it and caused by mutation of alpha-globin with no health problems
23
24 Reduced MCV and MCH with normal Hb A2 in lab data Physicians often mistake with iron deficiency anemia
25 Created by the remaining beta globin Lack of alpha protein is great enough to cause sever anemia and health problems such as an enlarged spleen, bone deformities, and fatigue
26 One parent is constant spring carrier and other carrier of alpha thalassemia trait Affected individual have a more sever anemia and suffer more frequently from enlargement of the spleen and viral infections
27 When two constant spring carriers pass their genes on to their child. The condition is less sever than Hb H-constant spring and more similar to Hb-H disease.
28 There are no alpha gene in the individual s DNA Gamma globins produced by the fetus to form an abnormal Hb called Hb Barts. Most individuals die before or shortly after birth
29 Co inheritance with heterozygous beta-thal and alpha-thal in particualr -alpha/-alpha genotype may be normalize MCV and MCH while Hb A2 levels remain elevated. Interaction of delta-thal and beta-thal trait may reduce Hb A2 to borderline or normal level while MCV and MCH are reduced. phenotype of deltabeta-thal is similar to alpha but alpha/beta globin chain synthesis is <0.9 for alpha and >1.2 in deltabeta carrier.
30 1) Megaloblastic Anemia due to B12/Folic Acid deficiency 2) Liver disease (Lipid Metabolism) 3) Unstable Hb, Sickle Trait, S/B, S/a 4)hyper Thyroedism 5) Viral Treatment in Acquired immune deficiency HIV 6) Combined a/b with Normal index
31 1) Delta Beta Thalassemia (Hetero/Homo) 2)Hb H disease 3) Unstable Hb, Sickle Trait, S/B, S/a 5) Iron deficiency 6)Hb D
32 1) Hb A 2 Hb G in S window in HPLC or Capillary System a) Mutation in Delta gene (16 Gly Arg) With increased Hb F <5% b) Deletion in 5 B gene c) Intronic mutation can cause pre mature splice site
33
34
35
36
37
38
39
40
41
42
43
44
45
46 Parental Options
47
48 Procurement removal of AF transabdominally with US* at weeks gestation determined via last menstrual period (LMP) *Ultrasound (US): locates the placenta (anterior or fundal in 70%) assess amount of AF date pregnancy via BPD, femur length, chest size locate fetus assess anatomy (brain, spinal cord, stomach, kidneys, HR)
49 Procurement (cont) removal of cc fluid which contains amniocytes and fluid use gauge spinal needle, strict asepsis w/ or w/o local anesthetic AF is produced by the fetus amniocytes are fetal in origin: skin, amnion, eyes, GU tract, GIT, respiratory system
50
51 Risks 1-3% overall for experienced doc Fetus: infection (<1/200) limb defects due to disruption of fetal development; severe arm/leg anomalies oromandibular hypogenesis amniotic puncture leading to amnionitis Mom: ½-1½% miscarriage risk cramping/bleeding infection (<1/200)
52 Problems/complications cannot do AFP for NTD; must do MSAFP at 15+ weeks mosaicism Rh limb defects Greatest advantage TIME
53
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 informationThalassemias. 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 informationHaemoglobin BY: MUHAMMAD RADWAN WISSAM MUHAMMAD
Haemoglobin BY: MUHAMMAD RADWAN WISSAM MUHAMMAD Introduction is the iron-containing oxygen transport metalloprotein in the red blood cells Hemoglobin in the blood carries oxygen from the respiratory organs
More informationAnemia 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 informationSICKLE CELL DISEASE. Dr. MUBARAK ABDELRAHMAN MD PEDIATRICS AND CHILD HEALTH. Assistant Professor FACULTY OF MEDICINE -JAZAN
SICKLE CELL DISEASE Dr. MUBARAK ABDELRAHMAN MD PEDIATRICS AND CHILD HEALTH Assistant Professor FACULTY OF MEDICINE -JAZAN Objective: The student should be able: To identify the presentation, diagnosis,
More informationThalassemias: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 informationHAEMOGLOBINOPATHIES. 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 informationGenetics 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 informationHEMOLYTIC ANEMIA DUE TO ABNORMAL HEMOGLOBIN SYNTHESIS
Hemolytic Anemia Due to Abnormal Hemoglobin Synthesis MODULE 19 HEMOLYTIC ANEMIA DUE TO ABNORMAL HEMOGLOBIN SYNTHESIS 19.1 INTRODUCTION There are two main mechanisms by which anaemia is produced (a) Thalassemia:
More informationComprehensive Hemoglobin Analysis HBA1/2 (
Comprehensive Hemoglobin Analysis HBA1/2 ( α-globin) and HBB (β-globin) mutation and deletion/duplication analysis and HBD (δ-globin) and HBG1/2 (γ-globin) mutation analysis Description: Hemoglobin (Hb)
More informationAnaemia in Pregnancy
Anaemia in Pregnancy Definition :anaemia is a pathological condition in which the oxygen-carrying capacity of red blood cells is insufficient to meet the body needs. The WHO : haemoglobin concentration
More informationThalassemia 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 informationThe 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 informationCorporate 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 informationWhat is Thalassaemia?
What is Thalassaemia? Introduction The thalassaemias are a diverse group of genetic blood diseases characterized by absent or decreased production of normal hemoglobin, resulting in a microcytic anemia
More informationHematology Unit Lab 1 Review Material
Hematology Unit Lab 1 Review Material - 2018 Objectives Laboratory instructors: 1. Assist students during lab session Students: 1. Review the introductory material 2. Study the case histories provided
More informationHaemoglobinopathies case studies 11 th Annual Sickle Cell and Thalassaemia Conference October 2017
Haemoglobinopathies case studies 11 th Annual Sickle Cell and Thalassaemia Conference 11 13 October 2017 Chris Lambert Haematology Service Delivery Manager Viapath Laboratories Kings College Hospital HUMAN
More informationHEMOGLOBIN 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 informationReport 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 informationDetecting and Reporting Alpha Thalassemia In Newborns
Detecting and Reporting Alpha Thalassemia In Newborns T. Davis, C. Moore, L. Nayak, M.C. Dorley, M. del Pilar Aguinaga, M. Chan, J. Ubaike, C. Yusuf Alpha Thalassemia Screening Status in the US Clinical
More informationMICO 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 informationHemolytic anemias (2 of 2)
Hemolytic anemias (2 of 2) Sickle Cell Anemia The most common familial hemolytic anemia in the world Sickle cell anemia is the prototypical (and most prevalent) hemoglobinopathy Mutation in the β-globin
More informationPitfalls 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 informationDiagnostic 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 informationGeneral Characterisctics
Anemia General Characterisctics Definition: anemia is a decrease in red blood cells. Happens due to underproduction, increased destruction or loss of red cells. Diagnosis of anemia: Hgb < 135 (men) Hgb
More informationUnraveling 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 informationRed cell disorder. Dr. Ahmed Hasan
Red cell disorder Dr. Ahmed Hasan Things to be learned in this lecture Definition and clinical feature of anemia. Classification of anemia. Know some details of microcytic anemia Question of the lecture:
More informationHeme Questions and Derivatives for the USMLE Step One Exam. Winter Storm Skylar Edition
Heme Questions and Derivatives for the USMLE Step One Exam Winter Storm Skylar Edition Howard J. Sachs, MD Howard@12DaysinMarch.com www.12daysinmarch.com Patient presents for routine preoperative evaluation
More informationHypochromic Anaemias
Hypochromic Anaemias Dr Mere Kende MBBS, MMED (Path), MAACB, MACTM, MACRRM LECTURER-SMHS Anaemia LOW HEMOGLOBIN Anaemia Definition: Hb
More informationHaemoglobinopathy Case Studies. Dr Jill Finlayson Department of Haematology Pathwest Laboratory Medicine
Haemoglobinopathy Case Studies Dr Jill Finlayson Department of Haematology Pathwest Laboratory Medicine Case 1 KB, 36y M Refugee Afghanistan Screening bloods Hb 101 g/l RCC 3.75 x10 12 /L MCV 90 fl MCH
More informationRBCs Disorders 2. Dr. Nabila Hamdi MD, PhD
RBCs Disorders 2 Dr. Nabila Hamdi MD, PhD ILOs Discuss the classification of anemia into hypochromic-microcytic, normochromicnormocytic and macrocytic. Categorize laboratory test procedures used in the
More informationScreening 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 informationWhen 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 informationChem*3560 Lecture 4: Inherited modifications in hemoglobin
Chem*3560 Lecture 4: Inherited modifications in hemoglobin Genetic modifications fall into two classes: Thalassemias, which are the result of failure to express globin genes. Thalassa is Greek for the
More informationAnatomy and Physiology
Anatomy and Physiology For The First Class 2 nd Semester Erythrocytes = Red Blood Cells (RBC) Erythrocytes = Red Blood Cells Red blood cells are biconcave discs, they have no nucleus and cytoplasmic organelles.
More informationTHALASSEMIA 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 informationNational Haemoglobinopathy Reference Laboratory. Information for Users
National Haemoglobinopathy Reference Laboratory Information for Users Summary The NHRL offers a service for the identification of haemoglobinopathy genotypes by the molecular analysis of DNA and haematological
More informationLaboratory for diagnosis of THALASSEMIA
SCBM343 CLINICAL PATHOLOGY 2(1-2-3) Laboratory for diagnosis of THALASSEMIA PORNTHIP CHAICHOMPOO pornthip.chh@mahidol.ac.th Acknowledgements Dr. Pranee Winichagoon Fucharoen Ms. Pornnapa Khampan Thalassemia
More informationO 2 O 2 O 2. Haemoglobin
O 2 O 2 O 2 Haemoglobin O 2 O 2 O 2 98% travels in oxyhaemoglobin (in red blood cells) 2% is dissolved in plasma (compared to carbon dioxide, oxygen is relatively insoluble in plasma) O 2 is not very soluble
More informationA Counseling Guide for Sickle Cell and Other Hemoglobin Variants
A Counseling Guide for Sickle Cell and Other Hemoglobin Variants The Virginia Sickle Cell Awareness Program Virginia Department of Health Division of Women s and Infant s Health 109 Governor Street Richmond,
More informationEducational Items Section
Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Educational Items Section Hemoglobin genes; Sickle-cell anemia - Thalassemias Jean-Loup Huret, Xavier Troussard
More informationExtra Notes 3. Warm. In the core (center) of the body, where the temperature is 37 C.
Extra Notes 3 *The numbers of the slides are according to the last year slides. Slide 33 Autoimmune hemolytic anemia : Abnormal circulating antibodies that target normal antigen on the RBC and cause lysis.
More informationCurrent Topics in Hemoglobinopathies
Current Topics in Hemoglobinopathies Bruce R Haas, MS, LCGC 28-29 September 2015 bruce.r.haas@kp.org 1 How malaria escapes effective immunological responses P falciparum exports PfEMP1 proteins and concentrate
More informationDr Banu Kaya Consultant Haematologist Barts Health NHS Trust Royal London Hospital, London, UK SICKLE CELL AND THALASSAEMIA OVERVIEW
Dr Banu Kaya Consultant Haematologist Barts Health NHS Trust Royal London Hospital, London, UK SICKLE CELL AND THALASSAEMIA OVERVIEW Objectives Gain awareness of haemoglobinopathy inheritance, pathophysiology
More informationFUNCTIONS OF HEMOGLOBIN:
HEMOGLOBIN: Conjugated protein Simple protein combined with a non-protein substance Hemoglobin HEME +GLOBIN nonprotein substance HEME( prosthetic group) Red colour of blood is due to Hb in RBCs Normal
More information7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics
SESSION 7 Medical Genetics Hemoglobinopathies and Biochemical Genetics J a v a d F a s a J a m s h i d i U n i v e r s i t y o f M e d i c a l S c i e n c e s, N o v e m b e r 2 0 1 7 Hemoglobinopathies
More informationQuiz. What percentage of the world s population is a carrier of a hemoglobinopathy? Hemoglobinopathies in Pregnancy 1-2% 5-7% 8-12% 10-15%
Hemoglobinopathies in Pregnancy Emily Parkhurst, MS, LCGC Kaiser West Los Angeles November 2017 Genetics Department Quiz What percentage of the world s population is a carrier of a hemoglobinopathy? 1-2%
More information4 Jumana Jihad Dr. Ahmad Mansour Dr. Ahmad Mansour
4 Jumana Jihad Dr. Ahmad Mansour Dr. Ahmad Mansour Anemia Decreased blood production Increased blood loss Hemolytic Hemorrhage Extravascular Intravascular Hemolytic (Further classification( Extrinsic Intrinsic
More informationHemoglobin. Each alpha subunit has 141 amino acids, and each beta subunit has 146 amino acids.
In the previous lecture we talked about erythropoiesis and its regulation by many vitamins like vitamin B12 and folic acid, proteins, iron and trace elements copper and cobalt. Also we talked about pernicious
More informationDONE BY : RaSHA RAKAN & Bushra Saleem
DONE BY : RaSHA RAKAN & Bushra Saleem Hemolytic anemias (2 of 2) Sickle Cell Anemia The most common familial hemolytic anemia in the world Sickle cell anemia is the prototypical (and most prevalent) hemoglobinopathy
More informationType and frequency of hemoglobinopathies, diagnosed in the area of Karachi, in Pakistan
HEMATOLOGY RESEARCH ARTICLE Type and frequency of hemoglobinopathies, diagnosed in the area of Karachi, in Pakistan Received: 09 March 2016 Accepted: 09 May 2016 First Published: 13 May 2016 *Corresponding
More informationLecture 5. Dr. Sameh Sarray Hlaoui
Lecture 5 Myoglobin & Hemoglobin Dr. Sameh Sarray Hlaoui Myoglobin and Hemoglobin Myoglobin - Myoglobin and Hemoglobin are (metalloprotein containing a heme prosthetic group). hemeproteins - Function as
More informationFetal Anemia 02/13/13. Anjulika Chawla, M.D. Assistant Professor Division of Pediatric Hematology/Oncology
Fetal Anemia 02/13/13 Anjulika Chawla, M.D. Assistant Professor Division of Pediatric Hematology/Oncology Objectives Definition of anemia Diagnosis of fetal anemia Normal developmental hematopoiesis Etiology
More informationIntroduction reduction in output alter the amino acid sequence combination
Sickle cell anemia. Introduction Mutations in the globin genes can cause a quantitative reduction in output from that gene or alter the amino acid sequence of the protein produced or a combination of the
More informationTransfusion support in Thalassaemia. Dr.A.keerti 1 st year PG DEPT. OF TRANSFUSION MEDICINE
Transfusion support in Thalassaemia Dr.A.keerti 1 st year PG DEPT. OF TRANSFUSION MEDICINE Structure of hemoglobin Types of hemoglobins Hemoglobin-Development Switching Thalassaemia- introduction Classification
More informationHow to Write a Life Care Plan for a Child with Hemoglobinopathy
How to Write a Life Care Plan for a Child with Hemoglobinopathy Tamar Fleischer, BSN, MSN, CNLCP & Mona Yudkoff, RN, MPH, CRRN, CNLCP BalaCare Solutions March 2018 St. Peterburg, Florida What is Hemoglobinopathy?
More informationHemoglobinopathies 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 informationMicrocytic Hypochromic Anemia An Approach to Diagnosis
Microcytic Hypochromic Anemia An Approach to Diagnosis Decreased hemoglobin synthesis gives rise to microcytic hypochromic anemias. Hypochromic anemias are characterized by normal cellular proliferation
More informationRBCs Disorders 2. Dr. Nabila Hamdi MD, PhD
RBCs Disorders 2 Dr. Nabila Hamdi MD, PhD ILOs Discuss the classification of anemia into hypochromic-microcytic, normochromicnormocytic and macrocytic. Categorize laboratory test procedures used in the
More informationLine Probe Assay for Detection of Alpha Thalassemia: A Pilot Study
Line Probe Assay for Detection of Alpha Thalassemia: A Pilot Study Menon PK *, Nimmakayalu M, Bylappa SK, Kumar M, Abdalhaleem HM Center for Advanced Biomedical Research and Innovation, Gulf Medical University,
More informationPOLICY 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 informationSusan Stegman, MD Medical Director AXA Equitable Life May 3, 2016
Susan Stegman, MD Medical Director AXA Equitable Life May 3, 2016 Underwriting impact Anemia overview Classification of anemia Specific anemia topics Iron deficiency anemia Thalassemia Megaloblastic anemia
More informationGenetic Modifiers of Sickle Cell Disease Severity. Kunle Adekile, MD, PhD Professor Department of Pediatrics Kuwait University
Genetic Modifiers of Sickle Cell Disease Severity Kunle Adekile, MD, PhD Professor Department of Pediatrics Kuwait University Outline Hb Molecule and Genetic control of globin synthesis Pathophysiology
More informationCover Page. The handle holds various files of this Leiden University dissertation.
Cover Page The handle http://hdl.handle.net/1887/35456 holds various files of this Leiden University dissertation. Author: Hassan, Suha Mustafa Title: Toward prevention of Hemoglobinopathies in Oman Issue
More informationThe diagnosis of Hemoglobinopathies
1ST IFCC, EFLM, AFCB CONFERENCE "LABORATORY MEDICINE: MEETING THE NEEDS OF MEDITERRANEAN NATIONS" Rome, Italy 02/07/2018 The diagnosis of Hemoglobinopathies Dr Antonino Giambona Unit of Hematology of Rare
More informationThe Challenging Diagnosis of Treacherous Hemoglobinopathies
The Challenging Diagnosis of Treacherous Hemoglobinopathies David F. Keren, M.D. Professor of Pathology The University of Michigan dkeren@med.umich.edu Objectives Use Capillary Electrophoresis and HPLC
More informationHAEMATOLOGICAL EVALUATION OF ANEMIA. Sitalakshmi S Professor and Head Department of Clinical Pathology St John s medical College, Bangalore
HAEMATOLOGICAL EVALUATION OF ANEMIA Sitalakshmi S Professor and Head Department of Clinical Pathology St John s medical College, Bangalore Learning Objectives Laboratory tests for the evaluation of anemia
More informationHEMOGLOBINOPATHIES LECTURE OUTLINE. An overview of the structure of hemoglobin. Different types of hemoglobin. Definition of hemoglobinopathies
Slide 1 HEOGLOBINOPATHIES Slide 2 LETURE OUTLINE An overview of the structure of hemoglobin. Different types of hemoglobin. Definition of hemoglobinopathies Sickle ell Disease and Hemoglobin Slide 3 HEOGLOBIN
More informationClinical 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 informationHematology Revision. By Dr.AboRashad . Mob
1 1- Hb A2 is consisting of: a) 3 ά chains and 2 γ chains b) 2 ά chains and 2 β chains c) 2 ά chains and 2 δ chains** d) 2 ά chains and 3 δ chains e) 3 ά chains and 2 δ chains 2- The main (most) Hb found
More informationHigh Hemoglobin F in a Saudi Child Presenting with Pancytopenia
Case Report imedpub Journals http://www.imedpub.com Journal of Pediatric Care ISSN 2471-805X DOI: 10.21767/2471-805X.100002 High Hemoglobin F in a Saudi Child Presenting with Pancytopenia Abstract Saudi
More informationTopics of this lecture : RBC. Structural characteristics Hemoglobin Erythropoiesis Erythrocytes destruction
Topics of this lecture : RBC Structural characteristics Hemoglobin Erythropoiesis Erythrocytes destruction Structural characteristics Its small size and biconcave shape provides more surface area than
More informationDr. Ayman Mohsen Mashi, MBBS Consultant Hematology & Blood Transfusion Department Head, Laboratory & Blood Bank King Fahad Central Hospital, Gazan,
Dr. Ayman Mohsen Mashi, MBBS Consultant Hematology & Blood Transfusion Department Head, Laboratory & Blood Bank King Fahad Central Hospital, Gazan, KSA amashi@moh.gov.sa 24/02/2018 β-thalassemia syndromes
More informationA group of inherited disorders characterized by reduced or absent amounts of hemoglobin, the oxygencarrying protein inside the red blood cells.
Thalassemia A group of inherited disorders characterized by reduced or absent amounts of hemoglobin, the oxygencarrying protein inside the red blood cells. Types of Thallasemia 1) Thalassemia trait 2)
More informationAssessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory
Assessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory Bao Yang MPH Candidate Background The Wisconsin Newborn Screening (NBS) Laboratory screens 70,000 babies
More informationBatool Emad. Marah Karablieh. - Nayef Karadsheh
4 4 1 P a g e Batool Emad Marah Karablieh - Nayef Karadsheh ***Topics that will be discussed in this Lecture: 1) Globin gene organization 2) Hemoglobinopathies 3) HbS (sickle cell disease) 4) HbC and HbSC
More informationThalassemia. By: Rebecca Chang (Period 6)
+ Thalassemia By: Rebecca Chang (Period 6) + Physiology Ø Two types of thalassemia: alpha and beta Ø Autosomal recessive inheritance pattern Ø Hemoglobin is damaged but symptoms greatly vary, especially
More information- Ensherah Mokheemer. - Rama Nada. - Tareq Aladily. 1 P a g e
-3 - Ensherah Mokheemer - Rama Nada - Tareq Aladily 1 P a g e In this lecture we will continue talking about autoimmune hemolytic anemia. Autoimmune hemolytic anemia - There are several types that shares
More informationPlease circulate to your laboratory staff.
Please circulate to your laboratory staff. ALL staff can now earn free CME/CE credit with the Blood Cell Identification Survey (KP-B)! Complete the specified reading in the 2007 KP-B Participant Summary
More informationAnemia 1: Fourth year Medical Students/ October/21/ 2015/ Abdallah Abbadi.MD.FRCP Professor
Anemia 1: Fourth year Medical Students/ October/21/ 2015/ Abdallah Abbadi.MD.FRCP Professor Email: abdalla.awidi@gmail.com Main Hematological diseases A- Benign Hematology 1- Anemias 2- Bleeding disorders
More informationTHALASSEMIA DEFINITION INHERITANCE BASICS 2014/03/04. THALASSA : GREEK WORD GREAT SEA First observed: MEDITTERANIAN SEA
THALASSA : GREEK WORD GREAT SEA First observed: MEDITTERANIAN SEA THALASSEMIA Fareed Omar Paediatric Oncologist Steve Biko Academic Hospital University of Pretoria DEFINITION Thalassemia syndromes are
More information6.1 Extended family screening
CHAPTER 6 CONCLUSION Cost benefit analysis of thalassemia screening programs have shown that the single years treatment for a β-thalassemia major patient was much higher than a total cost per case prevented.
More informationAround million aged erythrocytes/hour are broken down.
Anemia Degradation ofheme Around 100 200 million aged erythrocytes/hour are broken down. The degradation process starts in reticuloendothelial cells in the spleen, liver, and bone marrow. [1] The tetrapyrrole
More informationAn 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 informationa-thalassemia in the American Negro
a-thalassemia in the American Negro ELIAS SCHWARTZ and JEAN ATWATER From the Cardeza Foundation for Hematologic Research and the Departments of Pediatrics and Medicine, Jefferson Medical College, Philadelphia,
More informationTHE UNIVERSITY OF JORDAN FACULTY OF MEDICINE DEPARTMENT OF PATHOLOGY HEMOLYTIC ANEMIAS. Dr. Tariq Aladily
THE UNIVERSITY OF JORDAN FACULTY OF MEDICINE DEPARTMENT OF PATHOLOGY HEMOLYTIC ANEMIAS Third year medical students First semester Faculty 2018/2019 of Medicine Hereditary Spherocytosis Intrinsic defects
More informationGeorge R. Honig Junius G. Adams III. Human Hemoglobin. Genetics. Springer-Verlag Wien New York
George R. Honig Junius G. Adams III Human Hemoglobin Genetics Springer-Verlag Wien New York George R. Honig, M.D., Ph.D. Professor and Head Department of Pediatrics, College of Medicine University of Illinois
More informationHemoglobin and anemia BCH 471
Hemoglobin and anemia BCH 471 OBJECTIVES Quantitative determination of hemoglobin in a blood sample. Hemoglobin structure Hemoglobin (Hb) is a porphyrin iron (II) protein in RBCs that transport oxygen
More information* imagine if the Hb is free ( e.g. hemolysis ) in the plasma what happens?
In this lecture we will talk about Some characteristics of RBC. Erythrpoiesis : * During fetal & adult life. * its regulation. RBCs : - Appear under the microscope as circular,unnucleated and biconcave
More informationBiology 2C03: Genetics What is a Gene?
Biology 2C03: Genetics What is a Gene? September 9 th, 2013 Model Organisms - E. coli - Yeast - Worms - Arabodopsis - Fruitflie - Mouse What is a Gene? - Define, recognize, describe and apply Mendel s
More informationGenetic Modulation on the Phenotypic Diversity of Sickle Cell Disease
Genetic Modulation on the Phenotypic Diversity of Sickle Cell Disease Malay B. Mukherjee Abstract Sickle cell hemoglobin is a β chain structural variant where valine is substituted for glutamic acid in
More informationPrevalence 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 informationSickle Cell Disease and impact on the society
Sickle Cell Disease and impact on the society Professor Z.A.Jeremiah Ph.D, FRCPath (London) Professor of Haematology and Blood Transfusion Science Niger Delta University, Wilberforce Island Outline What
More information1) Anemias Dr. Anwar Sheikha
1) Anemias Dr. Anwar Sheikha DEFINITION: Anemia can be defined as a reduction in the concentration of hemoglobin below what is normal for age and sex of the patient. This reduction of hemoglobin is usually
More informationGenetic 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 informationBeta 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 informationEXTERNAL QUALITY ASSESSMENT FOR HAEMOGLOBIN A 2
EXTERNAL QUALITY ASSESSMENT FOR HAEMOGLOBIN A 2 Dr Barbara abaawild The importance of Hb A 2 measurement Accurate and reliable measurement of Hb A 2 is essential for the diagnosis of beta thalassaemia
More informationAnemia 1: Fourth year Medical Students/ Feb/22/ Abdallah Awidi Abbadi.MD.FRCP.FRCPath Professor
Anemia 1: Fourth year Medical Students/ Feb/22/ 2018 Abdallah Awidi Abbadi.MD.FRCP.FRCPath Professor Email: abdalla.awidi@gmail.com Kidney EPO O2 Sensor Blood vessel Definition: Anemia is operationally
More informationApproach to Hemolysis
Objectives: Approach to Hemolysis To know the function of platelets and the relationship between the platelet count in peripheral blood and the extent of abnormal bleeding. To know about the diseases associated
More information