Document Detail

Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly
MedLine Citation:
PMID:  19110523     Owner:  NLM     Status:  MEDLINE    
May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder characterized by thrombocytopenia, giant platelets, and unique leukocyte inclusion bodies. The diagnosis of MHA has been made by identifying leukocyte inclusion bodies on May-Giemsa stained blood film, however, it is not always easy to detect these findings. Therefore, patients with MHA are often misdiagnosed and managed as having idiopathic thrombocytopenic purpura. MHA is caused by mutations in the MYH9 gene, which encodes the nonmuscle mysosin heavy chain-A (NMMCH-A). Currently, MHA is definitively diagnosed by immunofluorescence study of leukocyte NMMHC-A localization and MYH9 gene analysis. In this study, we reported two sisters with MHA, who showed consistently decreased platelet counts and giant platelets. However, we could not detect inclusion bodies in their leukocytes. Immunofluorescence analysis of NMMHC-A in leukocytes of both sisters showed abnormal NMMHC-A localization. Furthermore, MYH9 gene analysis of both patients showed heterozygous R116C mutation in exon 26. Based on these findings, the two sisters were diagnosed as having MHA. Immunofluorescence analysis of neutrophil NMMHC-A is useful for diagnosis in patients without leukocyte inclusion bodies who are suspected of having MHA.
Noriko Kimura; Masanori Matsumoto; Katsuya Matsumoto; Norihiko Asai; Shinji Kunishima
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Publication Detail:
Type:  Case Reports; English Abstract; Journal Article    
Journal Detail:
Title:  [Rinshō ketsueki] The Japanese journal of clinical hematology     Volume:  49     ISSN:  0485-1439     ISO Abbreviation:  Rinsho Ketsueki     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-26     Completed Date:  2009-06-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2984782R     Medline TA:  Rinsho Ketsueki     Country:  Japan    
Other Details:
Languages:  jpn     Pagination:  1614-8     Citation Subset:  IM    
Department of Laboratory Medicine, Nara City Hospital, Japan.
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MeSH Terms
Blood Platelets / pathology*
Exons / genetics
Fluorescent Antibody Technique*
Inclusion Bodies / pathology*
Molecular Motor Proteins / genetics
Mutation, Missense
Myosin Heavy Chains / analysis*,  genetics*
Neutrophils / metabolism
Thrombocytopenia / blood,  diagnosis*,  genetics*,  pathology
Reg. No./Substance:
0/MYH9 protein, human; 0/Molecular Motor Proteins; 0/Myosin Heavy Chains

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