Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions
This case emphasizes that MYH9-RD should be considered in the differential diagnosis of unexplained thrombocytopenia, particularly when accompanied by characteristic cytological findings (e.g., giant platelets, blue inclusions in leukocytes) and a positive family history of related manifestations. The consistency of phenotypes within the affected family supports the importance of genetic screening and long-term follow-up for relatives of confirmed cases to enable early detection and management of potential complications.
Authors
- Xiaoqiang Lian
- Jihong Hao (ORCID: https://orcid.org/0000-0002-0806-6720)
- Li Cao (ORCID: https://orcid.org/0000-0002-5798-6910)
- Haixia Li (ORCID: https://orcid.org/0000-0002-9433-3919)
- Ruimin Li (ORCID: https://orcid.org/0000-0002-9635-780X)
- Shuxia Zhang (ORCID: https://orcid.org/0000-0002-1745-4856)
- Haixin Li (ORCID: https://orcid.org/0000-0002-9200-7642)
- Ling Xu (ORCID: https://orcid.org/0000-0003-0749-6195)
Institutions
- Hebei Medical University (CN)
- Handan College (CN)
- Second Hospital of Hebei Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-07-25
- DOI
- https://doi.org/10.3389/fped.2025.1588675
- Citations
- 1
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.77