Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

doi:10.1111/trf.15992

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Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Transfusion - 1 Oct 2020

Guéguen Paul, Dupuis Arnaud, Py Jean-Yves, Desprès Aurore, Masson Emmanuelle, Le Marechal Cédric, Cooper David N, Gachet Christian, Chen Jian-Min, Férec Claude

Abstract excerpt

BACKGROUND: Thrombocytopenia has a variety of different etiologies, both acquired and hereditary. Inherited thrombocytopenia may be associated with other symptoms (syndromic forms) or may be strictly isolated. To date, only about half of all the familial forms of thrombocytopenia have been accounted for in terms of well-defined genetic abnormalities. However, data are limited on the nature and frequency of the...

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Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

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