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X-linked thrombocytopenia with beta-thalassemia; thrombocytopenia, platelet dysfunction, hemolysis, & imbalanced globin synthesis
Genetics:
- X-linked
- associated with defects in GATA1
Clinical manifestations:
- thrombocytopenia with beta-thalassemia
Laboratory:
1) complete blood count with reticulocyte coutn
a) reticulocytosis
b) moderate thrombocytopenia
2) prolonged bleeding time due to platelet dysfunction
3) hemoglobin electrophoresis
- unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor
4) GATA1 gene exon 2 mutation
General
X-linked disease
genetic disease of the blood/bone marrow
thrombocytopenia
genetic syndrome (multisystem disorder)
beta thalassemia
Database Correlations
OMIM 314050
References
OMIM :accession 314050