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Master Thesis

Analyse descriptive de quatre patients bêta-thalassémiques majeurs avec un diagnostic néonatal : apport de la greffe de moelle osseuse allogénique intrafamiliale : Descriptive analysis of four Beta thalassemia children diagnosed from birth: benefit of allogenic bone marrow transplantation

Abstract : Beta thalassemia is an inherited disorder of haemoglobin resulting from defective synthesis of β globin chains. This disease with autosomic recessive transmission is frequently encountered in parts of Asia, Middle East, and throughout the Mediterranean, but it’s rare in France. Homozygous have moderate or severe anemia requiring regular blood transfusion and a secondary hemochromatosis. The depth of anemia and need of blood products define the two main phenotype of disease: β thalassaemia major and βthalassaemia intermedias. Since 2000, most of thalassemia is diagnosed from neonatal screening initially in place for the diagnosis of sickle cell diseases. In order to prevent complications due to iron overload, an iron chelator is provided to patients. The only curative treatment of the disease is the transplantation of allogenic bone marrow when HLA-matched donor exists in their siblings. In this study, we illustrate the advantages and disadvantages of this treatment based on comparison of four children with beta thalassemia major detected at birth and treated at the University Hospital of Bordeaux. Two of the four children received a bone marrow transplant. The other two children do not have a matching donor in their siblings, so they could not have transplant. Four years after the transplant, patients are cured, while at the same age, non-transplanted patients still continue to have monthly transfusion, and iron overload despite chelation therapy. No co-morbidity associated with graft is described so far (median follow up of 8 years after transplant). Excellent results of gene therapy in clinical trials are a real hope for those who can not have bone marrow transplants.
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https://dumas.ccsd.cnrs.fr/dumas-01266485
Contributor : Bu Carreire Université de Bordeaux <>
Submitted on : Tuesday, February 2, 2016 - 6:00:46 PM
Last modification on : Wednesday, August 23, 2017 - 4:40:12 PM

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Krystelle Littée. Analyse descriptive de quatre patients bêta-thalassémiques majeurs avec un diagnostic néonatal : apport de la greffe de moelle osseuse allogénique intrafamiliale : Descriptive analysis of four Beta thalassemia children diagnosed from birth: benefit of allogenic bone marrow transplantation. Sciences pharmaceutiques. 2015. ⟨dumas-01266485⟩

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