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

Autor:	Singh, Namrata, Bhatia, Prateek, Jamwal, Manu, Khadwal, Alka Rani, Chhabra, Sanjeev, Hira, Jasbir Kaur, Das, Reena, Sharma, Prashant
Předmět:	PROTEIN metabolism GENETIC mutation HEMOGLOBINS HIGH performance liquid chromatography HEPATOMEGALY SPLEEN diseases GENES THROMBOCYTOPENIA BETA-Thalassemia COMORBIDITY PHENOTYPES RARE diseases
Zdroj:	International Journal of Laboratory Hematology; Dec2023, Vol. 45 Issue 6, p999-1002, 4p
Abstrakt:	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.
Databáze:	Complementary Index
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