Two rare pathogenic HBB variants in a patient with beta-thalassemia intermedia

Hançer, Veysel SabriFışgın, TunçBüyükdoğan, Murat2020-08-302020-08-302020Hancer, V. S., Fisgin, T., & Buyukdogan, M. (2020). Two Rare Pathogenic HBB Variants in a Patient with beta-Thalassemia Intermedia. TURKISH JOURNAL OF HEMATOLOGY, 37(2), 135–136. https://doi.org/10.4274/tjh.galenos.2020.2020.00201300-77771308-5263https://doi.org/10.4274/tjh.galenos.2020.2020.0020https://hdl.handle.net/20.500.12713/474WOS: 000531086600014The ?-thalassemias are a group of hereditary disorders with autosomal recessive inheritance characterized by the presence of defective synthesis of the ?-globin chain, an integral component of the hemoglobin molecule, resulting in either partial synthesis (?+) or complete absence (?0) [1]. The disease reaches a high frequency in the Mediterranean Basin, Africa, the Middle East, the Indian subcontinent, and Southeast Asia [2]. According to the World Health Organization, the frequency of abnormal hemoglobin is 7% globally [3]. ?-Thalassemia major is characterized by completely inhibited synthesis of beta chains [4], and so it must be treated, generally by transfusion therapy [4].eninfo:eu-repo/semantics/openAccessBeta ThalassemiaHbbVariationTwo rare pathogenic HBB variants in a patient with beta-thalassemia intermediaBir beta talasemi intermedya hastasında iki nadir patojenik HBB varyantıLetter37213513632069775WOS:0005310866000142-s2.0-85084271723Q410.4274/tjh.galenos.2020.2020.0020Q3365993