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Revista médica de Chile

Print version ISSN 0034-9887


CONTE, Guillermo; LOPEZ, Miguel  and  ALARCON, Pablo. Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene. Report of one case. Rev. méd. Chile [online]. 2018, vol.146, n.9, pp.1074-1078. ISSN 0034-9887.

We report a 51-year-old female who had a first episode of thrombocytopenia at 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21,000/ul was detected. She was treated with eltrombopag with a good response. The family history of the patient revealed the presence of thrombocytopenia in several family members. Suspecting a hereditary thrombocytopenia, a genetic study revealed a mutation in the MYH-9 gene. This mutation can be suspected when there is a family history of thrombocytopenia with autosomal dominant inheritance, macrothrombocytopenia and in this particular case, due to the response to thrombopoietin receptor agonist, eltrombopag.

Keywords : Genetic Diseases; Inborn; Thrombocytopenia; Human Genetics.

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