β-Globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon
摘要：
Sickle cell disease (SCD) is an inherited autosomal recessive disorder of the β-globin chain. Despite the fact that all subjects with SCD have the same single base pair mutation, the severity of the clinical and hematological manifestations is extremely variable. This study examined for the first time in Lebanon the correlation between the clinical manifestation of SCD and the β-globin gene haplotypes. The haplotypes of 50 patients diagnosed with SCD were determined using polymerase chain reaction amplification of fragments containing nine polymorphic restriction sites around and within the ε–Gγ–Aγ–ψβ–δ–β-globin gene complex. Most reported haplotypes were found in our population with the Benin haplotype as the most prevalent one. When the patients were divided according to their HbF levels into three groups (Group A: HbF < 5%, Group B: HbF between 5 and 15%, and Group C: HbF >
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DOI：
10.1034/j.1600-0609.2003.00016.x
被引量：
年份：
2003
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