Article

A De Novo GATA1 Mutation Presenting with Recurrent Thrombocytopenia, Pain Syndrome, and Psychiatric Comorbidity: A Case Report

2025-08-04

Abstract excerpt

We describe a pediatric case with a novel, de novo GATA1 mutation (c.647G>A; p.Arg216Gln), manifesting not only with classical hematologic abnormalities but also with severe, chronic musculoskeletal pain and psychiatric comorbidity. The patient exhibited recurrent thrombocytopenia, persistent platelet dysfunctions, recurrent mucocutaneous hemorrhages, and developed opioid dependence due to intractable pain, later...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f1560b48-0e1a-50e1-8587-038073fd1807
DOI: 10.22541/au.175431440.02830671/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A De Novo GATA1 Mutation Presenting with Recurrent Thrombocytopenia, Pain Syndrome, and Psychiatric Comorbidity: A Case ReportDOI 10.22541/au.175431440.02830671/v1Read

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiencySemantic proximity Read

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.Semantic proximity Read

Highly variable clinical manifestations in a large family with a novel GATA2 mutation.Semantic proximity Read

GATA1 gene variants associated with thrombocytopenia and anemia.Semantic proximity Read

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.Semantic proximity Read

Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.Semantic proximity Read

GATA2 Deficiency Syndrome: A Case Series and Literature Review.Semantic proximity Read

A De Novo STAT6 p.D419G Variant Causing Severe Multi-Organ Allergic Disease: Case Report on a Transformative Response with DupilumabSemantic proximity Read

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.Semantic proximity Read

Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.Semantic proximity Read

Inherited thrombocytopenia due to GATA-1 mutations.Semantic proximity Read

Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations.Semantic proximity Read