Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country
HEMOGLOBIN, cilt.48, ss.258-260, 2024 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 48
- Basım Tarihi: 2024
- Doi Numarası: 10.1080/03630269.2024.2386067
- Dergi Adı: HEMOGLOBIN
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE
- Sayfa Sayıları: ss.258-260
- Hacettepe Üniversitesi Adresli: Evet
Özet
Beta thalassemia is one of the monogenic disorders characterized by decreased production of beta-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant beta thalassemia due to a heterozygous mutation in exon 3 of the HBB gene.