Abstract
Thalassemia is the most common genetic disorder in Iran. Some α-globin genotypes leading to Hb H disease may cause severe anemia and dependence on regular blood transfusions. In this study, 40 patients were analyzed for the molecular basis and the genotype-phenotype correlation of Hb H disease in Iran. α-Globin molecular analysis was performed by polymerase chain reaction (PCR) followed by agarose gel electrophoresis, reverse hybridization test strips or DNA sequencing. The most frequently observed α-globin genotypes were –α3.7/– –MED in 10 patients (25%), – –20.5/α–5ntα in six patients (15%) and – –20.5/–α3.7 in four patients (10%). A subset of the identified Hb H genotypes, including – –MED/αCSα, – –MED/αPolyA2α and αCSα/αCSα, was associated with a need for regular or irregular blood transfusions. Our findings provide a basis for predicting phenotype severity by identifying the Hb H genotype and making more selective decisions for prenatal diagnosis.
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