Thrombocytopenia and CD34 expression is decoupled from α‐granule deficiency with mutation of the first growth factor‐independent 1B zinc finger

Essentials The phenotypes of different growth factor‐independent 1B (GFI1B) variants are not established. GFI1B variants produce heterogeneous clinical phenotypes dependent on the site of mutation. Mutation of the first non‐DNA‐binding zinc‐finger causes a mild platelet and clinical phenotype. GFI1B regulates the CD34 promoter; platelet CD34 expression is an indicator of GFI1B mutation.

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