A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up
10.15264/cpho.2016.23.2.167
- Author:
Seong Jun PARK
1
;
Hwahyun WY
;
Hye Lim JUNG
;
Jae Won SHIM
;
Jung Yeon SHIM
;
Deok Soo KIM
;
Moon Soo PARK
;
Soo Hyun SEO
;
Moon Woo SEONG
Author Information
1. Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. hl.jung@samsung.com
- Publication Type:Case Report
- Keywords:
May-Hegglin anomaly;
MYH9-related disorders;
MYH9 gene;
Thrombocytopenia;
Asp1447Tyr
- MeSH:
Anemia, Iron-Deficiency;
DNA;
Female;
Follow-Up Studies;
gamma-Globulins;
Humans;
Inclusion Bodies;
Iron;
Leukocytes;
Platelet Count;
Platelet Function Tests;
Purpura, Thrombocytopenic, Idiopathic;
Thrombocytopenia
- From:Clinical Pediatric Hematology-Oncology
2016;23(2):167-170
- CountryRepublic of Korea
- Language:English
-
Abstract:
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/µL 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.
