Bases moléculaires des syndromes thalassémiques et facteurs génétiques modulateurs de sévérité de la beta-thalassémie.

Nathalie Bonello-Palot 1, 2 Catherine Badens 1, 2, *
* Corresponding author
2 Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM]
Département de génétique médicale [Hôpital de la Timone - APHM]
Abstract : Thalassaemia is a group of inherited haemoglobin disorders characterized by reduced synthesis of one or more of the globin chains leading to imbalanced alpha /non-alpha globin production. These disorders display remarkable diversity in the severity, mainly related to the degree of chain imbalance and to the innate ability to produce fetal haemoglobin in adult life. Several genetic factors have recently been shown to influence HbF levels in beta-thalassaemia and may lead to new strategies to modify the disease course of severe haemoglobin disorders.
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Nathalie Bonello-Palot, Catherine Badens. Bases moléculaires des syndromes thalassémiques et facteurs génétiques modulateurs de sévérité de la beta-thalassémie.. Revue Méditerranéenne de Génétique Humaine, 2010, 1, pp.1-10. ⟨hal-00634744⟩

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