X-linked dyserythropoietic anemia & thrombocytopenia
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Genetics
Laboratory
- complete blood count may show thrombocytopenia
- peripheral smear
- erythrocytes with abnormal size & shape
- paucity of platelets in peripheral blood
- bone marrow biopsy
- megakaryocytes are abundant but abnormally small
- GATA1 gene exon 2 mutation
More general terms
- X-linked disease
- genetic disease of the blood/bone marrow
- genetic syndrome (multisystem disorder)
- thrombocytopenia