Two rare pathogenic HBB variants in a patient with beta-thalassemia intermedia
Yükleniyor...
Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The ?-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].
Açıklama
WOS: 000531086600014
Anahtar Kelimeler
Beta Thalassemia, Hbb, Variation
Kaynak
Turkish Journal of Hematology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
37
Sayı
2
Künye
Hancer, 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.2020.2020.0020
