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KMID : 0387820160230020167
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Clinical Pediatric Hematology-Oncology
2016 Volume.23 No. 2 p.167 ~ p.170
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A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up
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Park Seong-Jun
Wy Hwa-Hyun
Jung Hye-Lim
Shim Jae-Won
Shim Jung-Yeon
Kim Deok-Soo
Park Moon-Soo
Seo Soo-Hyun
Seong Moon-Woo
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Abstract
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May-Hegglin anomaly (MHA) is a myosin-heavy-chain-9 (MYH9)-related disorder characterized by thrombocytopenia with giant platelets and inclusion bodies in leukocytes. MHA does not require treatment, but it may be misdiagnosed as immune thrombocytopenic purpura (ITP) and inappropriately managed. Reported herein is a case of a 12 year old female patient diagnosed as MHA with laboratory findings of severe thrombocytopenia and giant platelets in peripheral blood morphology, and followed up until 23 years of age. The patient had been diagnosed with ITP and treated with intravenous gamma-globulin therapy at another hospital, and showed no improvements in platelet count. She was then referred to our hospital for further diagnostic workup and followed up for 11 years, showing platelet count of 6,000-20,000/?L and prolonged platelet function test. She was occasionally treated with iron therapy due to iron-deficiency anemia. In 2014, we conducted a DNA analysis that revealed c.4339G＞T(p.Asp1447Tyr), a known mutation of MYH9 gene.
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KEYWORD
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May-Hegglin anomaly, MYH9-related disorders, MYH9 gene, Thrombocyto-penia, Asp1447Tyr
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