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Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.

Authors :
Coskun, Cagri
Unal, Sule
Source :
Hemoglobin. Jul2024, Vol. 48 Issue 4, p258-260. 3p.
Publication Year :
2024

Abstract

Beta thalassemia is one of the monogenic disorders characterized by decreased production of β-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 β thalassemia due to a heterozygous mutation in exon 3 of the HBB gene. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03630269
Volume :
48
Issue :
4
Database :
Academic Search Index
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
180430469
Full Text :
https://doi.org/10.1080/03630269.2024.2386067