A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.

ABSTRACT: Mutations in the MYH9 gene result in macrothrombocytopenia often associated with hemorrhages. Here, we studied the function and structure of platelets in three family members with a heterozygous mutation R1933X in the MYH9 gene, characteristic of closely related disorders known as the May-Hegglin anomaly and Sebastian syndrome. The examination included complete blood count, blood smear microscopy, platelet flow cytometry (expression of P-selectin and active integrin αIIbβ3 before and after activation), the kinetics of platelet-driven contraction (retraction) of blood clots, as well as scanning/transmission electron microscopy of platelets. Despite severe thrombocytopenia ranging (36-86) × 10⁹/l, none of the patients had hemorrhages at the time of examination, although they had a

SUBMITTER: Safiullina SI 

PROVIDER: S-EPMC9676191 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature