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X-linked dyserythropoietic anemia & thrombocytopenia
Genetics:
- X-linked
- associated with defects in GATA1
Laboratory:
- complete blood count may show thrombocytopenia
- peripheral smear
a) erythrocytes with abnormal size & shape
b) paucity of platelets in peripheral blood
- bone marrow biopsy
- megakaryocytes are abundant but abnormally small
- GATA1 gene exon 2 mutation
General
X-linked disease
genetic disease of the blood/bone marrow
genetic syndrome (multisystem disorder)
thrombocytopenia
Database Correlations
OMIM 300367
References
OMIM :accession 300367