Diagnostic delay of <scp><i>MYH9</i></scp>‐related disorder in Japan-Reference-Cited by-同舟云学术

Diagnostic delay of MYH9‐related disorder in Japan

Published:2024-04-22 Issue:6 Volume:204 Page:2400-2404
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Sakamoto Atsushi¹²^ORCID,Uchiyama Toru³,Kaname Tadashi⁴,Iguchi Akihiro²,Ohara Osamu⁵,Ishimura Masataka⁶,Onum Masaei⁷,Kunishima Shinji⁸,Ishiguro Akira¹²^ORCID

Affiliation:

1. Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD) Tokyo Japan

2. Division of Haematology NCCHD Tokyo Japan

3. Department of Human Genetics NCCHD Tokyo Japan

4. Department of Genome Medicine NCCHD Tokyo Japan

5. Department of Applied Genomics Kazusa DNA Research Institute Chiba Japan

6. Department of Paediatrics, Graduate School of Medical Sciences Kyushu University Fukuoka Japan

7. Department of Haematology/Oncology Miyagi Children's Hospital Miyagi Japan

8. Department of Medical Technology, School of Health Sciences Gifu University of Medical Science Gifu Japan

Abstract

SummaryMYH9‐related disorder (MYH9‐RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9‐RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9‐RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9‐RD in Japan. Our registry system will continue to contribute to this issue.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.19484

Reference21 articles.

1. MYH9: Structure, functions and role of non-muscle myosin IIA in human disease

2. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)

3. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders

4. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

5. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly