Congenital Haemoglobinopathies
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1 Congenital Haemoglobinopathies L. DEDEKEN, MD H O P I T A L U N I V E R S I T A I R E D E S E N F A N T S R E I N E F A B I O L A U N I V E R S I T E L I B R E DE B R U X E L L E S Red Blood Cell Disorders BHS training course 2013
2 Introduction ~ 5% of the world s population carries trait genes for haemoglobin disorders Carriers ~ 25% in some regions > new births with severe haemoglobin disorders each year Lopez et al. Gene 2010
3 Sickle cell disease
4 Epidemiology Rees et al. Lancet 2010 In Brussels 1 st genetic disorder 1/1600 birth Harteveld et al. Orphanet J Rare disease 2010
5 Genetics Autosomal recessive disorder Mutation on β-globin gene sixth aminoacid becomes valine instead of glutamic acid (HbS) Sickle cell trait Hb AS Sickle cell syndrome Hb SS (sickle cell anemia) Hb SC Hb Sβ-thalassemia Hb SD Punjab Hb SO Arab
6 Physiopathology Rees et al. Lancet 2010
7 Subphenotypes of SCD Kato et al. Blood Rev 2007
8 Diagnostic tools Blood cell count Peripheral blood smear Hemoglobin electrophoresis Genetic
9 Survival Quinn. Blood 2010 Platt. NEJM 1994
10 Clinical features
11 Anemia Chronic hemolytic anemia Hemoglobin level AA : g/dl SS : 6-10 g/dl SC : g/dl Acute event Erythroblastopenic anemia < B19 Parvovirus Infection Splenic sequestration G6PD deficiency, folate deficiency, malaria, allo-immunisation,
12 Infections
13 Vaso-occlusive crisis Painful event Increased occurence whith Hypoxia, dehydratation, acidosis, cold exposure, Dactylitis Osteo-articular manifestations Pain Swelling Functional impact Differential diagnosis : Osteomyelitis or arthritis
14 Acute chest syndrome Fever OR tachypnea OR decreased O 2 saturation with Abnormal pulmonary exam New infiltrate on RX Etiology Infections (30-40%) Fat embolism (7%) No identify cause (40-50%) Differential diagnosis Pulmonary embolism Lancet 2010
15 Cerebral vasculopathy
16 Lancet Neurol 2006 Blood 1998 Stroke Ischemic or hemorragic Seizures Cognitive impairement Blood 2009
17 How to assess the risk? Blood 2009
18 Chronic complications Retinopathy Leg ulcer Osteonecrosis Pulmonary hypertension
19 Management Education and information Good lifestyle To avoid risk factors (hypoxia, dehydratation, cold exposure, ) To recognize a acute event Folic acid Infection prevention Prophlyactic antibiotics Vaccination Streptococcus pneumonia, Haemophilus influenzae, Flu Emipiric antibiotherapy
20 Symptomatic management Vaso-occlusive crisis Adapted pain management Good hydratation Acute chest syndrome Exchange transfusion Antibiotics Stroke or unexplained neurological symptom Exchange transfusion
21 Intensification Chronic (exchange) transfusion program Primary or secondary prevention of stroke Recurrent ACS or VOC despite HU Organ failure (hepatic, renal, ) Hydroxyurea The only efficient drug Well tolerated Up to maximal tolerated dosis if needed Ware. Blood 2010
22 Voskaridou. Blood 2010 Lopes de Castro Lobo. BJH 2013
23 Hematopoietic stem cell transplantation The only curative treatment Severe disease and intra-familial HLA donor Survival Overall survival 92-96% Event free survival 82-86% Death 3-9% In development Matched unrelated donor Halpoidentical transplantation High risk of rejection and GVHD Gene therapy
24 Thalassemia
25 Lancet 2012
26 β-thalassemia
27 Physiopathology
28 Clinical outcome Severe anemia Without appropriate chronic transfusion Asthenia Dilated cardiomyopathy Hepatosplenomegaly Jaundice Bone deformities Specific facial deformation (frontal bossing, maxillary overgrowth,...) Osteoporosis Growth and development delayed Hypermetabolic state Recurrent infections
29 Treatment Chronic transfusion Monthly To keep Hb 9-11 g/dl Hb F inducer (HU) Iron overload Evaluation Ferritine Liver biopsy MRI T2* Clinical outcome
30 Iron chelators Neufeld. Blood 2006
31 Survival Adapted from Ladis et al. Ann N Y Acad Sci. 2005
32 HSCT & β-thalassemia Sabloff. Blood 2011
33 α-thalassemia Harteveld & Higgs. Orphanet J Rare Diseases 2010
34 Pathogenesis
35 Clinical features Absence of 1 or 2 α chain(s) -α/αα ; --/αα ; -α/-α Absence of 3 α chains (HbH disease) --/-α Absence of 4 α chains (Hb Bart s Hydrops Fetalis) --/-- Common Asymptomatic or moderate microcytic anemia Does not requires therapy Hemolytic feature (gallbladder lithiasis, HSM) Microcytic anemia (Hb 7-10g/dl) Folic acid, infrequent transfusion Hydrops fetalis Non viable
36 CONCLUSION
37 References Stuart MJ, Nagel RL. Sickle cell disease. Lancet. 2004; 364: Rees DC, Williams TN, Gladwin MT. Sickle cell disease. Lancet. 2010; 376: The management of sickle cell disease. Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012; 379: Harteveld CL, Higgs DR. Alpha-Thalassaemia. Orphanet J Rare Dis May 28;5:13
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