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