Two rare pathogenic HBB variants in a patient with β-thalassemia intermedia
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CitationHancer, V. S., Fışgın, T., Büyükdogan, M. (2020). Two rare pathogenic HBB variants in a patient with beta-thalassemia intermedia. Turkish Journal of Hematology, 37(2), 125-138.
The β-thalassemias are a group of hereditary disorders with autosomal recessive inheritance characterized by the presence of defective synthesis of the β-globin chain, an integral component of the hemoglobin molecule, resulting in either partial synthesis (β+) or complete absence (β0 ) . The disease reaches a high frequency in the Mediterranean Basin, Africa, the Middle East, the Indian subcontinent, and Southeast Asia . According to the World Health Organization, the frequency of abnormal hemoglobin is 7% globally .
SourceTurkish Journal of Hematology