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

• complete blood count with reticulocyte coutn
  • reticulocytosis
  • moderate thrombocytopenia
• prolonged bleeding time due to platelet dysfunction
• hemoglobin electrophoresis
  • unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor
• GATA1 gene exon 2 mutation

More general terms

• X-linked disease
• genetic disease of the blood/bone marrow
• thrombocytopenia
• genetic syndrome (multisystem disorder)
• beta thalassemia

Database

• OMIM: https://mirror.omim.org/entry/314050