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September 30, 2024CureusOpen Access

A Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review

Badriah G Alasmari Khalid Elzubair Ali S Alquraishi Mohammed Adlan Ali Alabbas Lina Elzubair Saeed Al Tala

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Abstract

Thrombopoietin (THPO) is a regulator of megakaryopoiesis and thrombopoiesis. Mutation of the

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Alasmari et al. (2024) studied this question.

synapsesocial.com/papers/68e56f73b6db6435875100af https://doi.org/10.7759/cureus.70513

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A novel thrombopoietin (<i>THPO</i>) mutation altering mRNA splicing in a case of familial thrombocytosiscase_report · 2020 · 8 citations
2A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish familycohort · 2008 · 49 citations
3A Case Report of Thrombocytopenia Caused by a May–Hegglin Anomaly in a Young Saudi FemaleCase Report · 2026
4A Rare MPIG6B Gene Mutation in a Saudi Adolescent Male With Thrombocytopenia, Anemia, and Myelofibrosis: A Case Report2024 · 1 citations
5A Single-Base Deletion in the Thrombopoietin (TPO) Gene Causes Familial Essential Thrombocythemia Through a Mechanism of More Efficient Translation of TPO mRNAother · 1999 · 75 citations

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Homozygous <scp>TFR2</scp> (c.2093_2096del) Mutation in an Asymptomatic Patient With Type 3 Hereditary Hemochromatosis, First Report From Saudi Arabia2026
Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile2024
Clinical Presentations, Diagnosis, and Genetic Features of Hemophagocytic Lymphohistiocytosis: A Single Institutional Experience With the Saudi Population2024

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