β-Hemoglobinopathies lead the way
نویسندگان
چکیده
منابع مشابه
Genetic association studies in β-hemoglobinopathies.
Characterization of the molecular basis of the β-thalassemias and sickle cell disease (SCD) clearly showed that individuals with the same β-globin genotypes can have extremely diverse clinical severity. Two key modifiers, an innate ability to produce fetal hemoglobin and coinheritance of α-thalassemia, both derived from family and population studies, affect the pathophysiology of both disorders...
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Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β-globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal ...
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ژورنال
عنوان ژورنال: Blood
سال: 2021
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.2020009961