Genetic modifiers of the β-haemoglobinopathies
نویسندگان
چکیده
منابع مشابه
Screening and genetic diagnosis of haemoglobinopathies.
The haemoglobin disorders are a group of autosomal recessive disorders characterized by either the reduced synthesis of one or more normal globin chains (the thalassaemias), the synthesis of a structurally abnormal globin chain (the haemoglobin variants) or in a few cases by both phenotypes (the reduced synthesis of a Hb variant, e.g. Hb E). They are the commonest single-gene disorders known an...
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Sickle cell disease (SCD) and β-thalassemia, two monogenic diseases caused by mutations in the β-globin gene, affect millions of individuals worldwide. These hemoglobin disorders are characterized by extreme clinical heterogeneity, complicating patient management and treatment. A better understanding of this patient-to-patient clinical variability would dramatically improve care and might also ...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2008
ISSN: 0007-1048
DOI: 10.1111/j.1365-2141.2008.07084.x