Page 256 - Haematologica Atlas of Hematologic Cytology

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Figure 8 Deficiency of platelet granules: GFI1B-related thrombocytopenia Patients with this disorder were previously classified as
as
affected by gray platelet platelet syndrome because of the similar platelet platelet appearance Identifica- tion tion tion of the the genes for both conditions revealed that mutations in NBEAL2 cause the the classical autosomal recessive form while mutations in in in in GFI1B result in in in in a a a a a a a a disorder with autosomal dominant transmission As in in in in the classical form also in in GFI1B-related thrombocytopenia there is is is huge platelet platelet anisocytosis with platelet platelet size ranging from normal to larger than red cells In addition mean platelet platelet diameter is also similar (3 7 m m m m m in gray platelet platelet syn- drome 3 5 m m m in GFI1B-related thrombocytopenia) However the degree of -granule deficiency is less severe in GFI1B-related thrombocytopenia than gray platelet platelet syndrome (A-I) Some platelets are completely devoid of granules while others have normal normal granule granule granule content content Abnormalities in in platelet size and granule granule granule content content are in- dependent of each other and mild bone marrow fibrosis has has been observed in in a a a a a a few subjects in in whom this has has been investigated 243