Abdul Rehman Arif, Miaomiao Zhao, Wenlan Chen, Mei Xue, Shanshan Luo, Yadan Wang
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引用次数: 2
Abstract
MYH9-related disorder (MYH9-RD) is autosomal dominant thrombocytopenia caused by mutations in the MYH9 gene, which codes for the non-muscle myosin-IIA heavy chain. We present a case of a 24-year-old Chinese man with MYH9-RD who was initially misdiagnosed with immune thrombocytopenia. Whole-exome sequencing and Sanger sequencing revealed a novel missense mutation in the MYH9 gene at the position of c.4550 G > T (p.G1517V) in exon 32. The same phenotype was observed in the proband, his mother, and his brother, in addition to macrothrombocytopenia and Dohle-like bodies in neutrophil granulocytes without non-hematologic manifestations. Following failed treatment with eltrombopag, avatrombopag, which was not mentioned before in the MYH9-RD treatment, was administered to the patient, and thrombocytopenia improved. In this case report, we present a novel pathogenic mutation and show the potential of avatrombopag for temporarily increasing the platelet count in patients with MYH9-RD.
期刊介绍：
Platelets is an international, peer-reviewed journal covering all aspects of platelet- and megakaryocyte-related research.
Platelets provides the opportunity for contributors and readers across scientific disciplines to engage with new information about blood platelets. The journal’s Methods section aims to improve standardization between laboratories and to help researchers replicate difficult methods.
Research areas include:
Platelet function
Biochemistry
Signal transduction
Pharmacology and therapeutics
Interaction with other cells in the blood vessel wall
The contribution of platelets and platelet-derived products to health and disease
The journal publishes original articles, fast-track articles, review articles, systematic reviews, methods papers, short communications, case reports, opinion articles, commentaries, gene of the issue, and letters to the editor.
Platelets operates a single-blind peer review policy. Authors can choose to publish gold open access in this journal.
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