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. 2025 Apr 16:1753495X251334520.
doi: 10.1177/1753495X251334520. Online ahead of print.

GNE-related severe congenital macro-thrombocytopenia in pregnancy

Sivaranjani P  1 , Bhabani Pegu  1 , Murali Subbaiah  1 , Pooja D  1 , Prabhu Manivannan  2 , Gowri Dorairajan  1
Affiliations

GNE-related severe congenital macro-thrombocytopenia in pregnancy

Sivaranjani P et al. Obstet Med. .

Abstract

Congenital thrombocytopenia results from mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. We report the case of a 25 year old primigravida who presented with severe macro-thrombocytopenia from the age of 12 years. She delivered an alive female baby at 35 weeks of gestation. She was diagnosed to have GNE gene mutation. GNE gene encodes the key enzyme in sialic acid biosynthesis, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE/MNK). The mutation is responsible for the reduction in sialic acid biosynthesis and consequently leads to severe congenital thrombocytopenia and/or myopathy. Although no sign of myopathy was observed in this patient; it is possible myopathy can be developed later, thus long-term follow-up with neurology is highly advisable. We recommend the genetic counselling and a segregation analysis of this variant in other affected individuals in the family.

Keywords: GNE mutation; Macro-thrombocytopenia.

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Conflict of interest statement

SP, BP, MS, PD, MP and GD conceived the idea and performed the search; SP and BP wrote the first draft; SP, BP, MS, MP and GD reviewed and revised the final draft; GD and MS reviewed and commented on the final draft. The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. The woman provided written informed consent for the publication of this case report. Sivaranjani P.

Figures

Figure 1.
Figure 1.
Peripheral blood film showing reduced and abnormally large platelets.
See this image and copyright information in PMC

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