GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report
Year: 2026
Type: article
Study design: Case Report
Abstract: BACKGROUND: Congenital thrombocytopenia represents a diagnostically challenging group of disorders due to overlapping clinical presentations among various etiologies. CASE PRESENTATION: A 3-month-old infant presented with severe thrombocytopenia (platelet count 6,000/μL), neutropenia, and bone marrow findings of megakaryocytic hypoplasia, initially suggestive of congenital amegakaryocytic thrombocytopenia (CAMT). Comprehensive genetic testing identified a homozygous pathogenic variant in the GNE gene (NM_001128227.2:c.1768G > A, p.Gly590Arg), establishing the definitive diagnosis of GNE-related thrombocytopenia (Thrombocytopenia-12, THC12). CLINICAL SIGNIFICANCE: This case highlights three critical aspects: first, the essential role of genetic testing in differentiating congenital thrombocytopenias; second, the distinct management implications of THC12 compared to CAMT; and third, the need for long-term monitoring given the potential for late-onset myopathy despite initial isolated hematologic manifestations. MANAGEMENT: Therapeutic interventions included intravenous immunoglobulin, platelet transfusions, and thrombopoietin receptor agonists, with concurrent evaluation for potential hematopoietic stem cell transplantation. CONCLUSION: This report underscores THC12 as an important diagnostic consideration in infants with congenital thrombocytopenia and emphasizes the necessity of genetic confirmation to guide appropriate clinical management and family counseling.
Source: Hematology
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,557
OpenAlex ID: W7127087635