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First reported co‐occurrence of "GATA1‐mutated X‐linked thrombocytopenia with thalassemia (XLTT)" with heterozygous β‐thalassemia.

Authors :
Singh, Namrata
Bhatia, Prateek
Jamwal, Manu
Khadwal, Alka Rani
Chhabra, Sanjeev
Hira, Jasbir Kaur
Das, Reena
Sharma, Prashant
Source :
International Journal of Laboratory Hematology; Dec2023, Vol. 45 Issue 6, p999-1002, 4p
Publication Year :
2023

Abstract

The article focuses on the first reported case of GATA1-related X-linked thrombocytopenia with co-inherited β-thalassemia trait (XLTT) in a 16-year-old boy. Topics include the role of GATA1 mutations in various hematopoietic disorders, the specific mutation (p.Arg216Gln) affecting GATA1 in this case, and the complexity of the phenotype resulting from the co-inheritance of XLTT and β-thalassemia.

Details

Language :
English
ISSN :
17515521
Volume :
45
Issue :
6
Database :
Complementary Index
Journal :
International Journal of Laboratory Hematology
Publication Type :
Academic Journal
Accession number :
173657110
Full Text :
https://doi.org/10.1111/ijlh.14130