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March 8, 2024MedicineOpen Access

Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report

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Authors

GWGuangli WangHDHuiping DengPPPeng Peng

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Overview

Case report reveals compound heterozygosity for β-thalassemia, highlighting implications for genetic diagnosis and treatment.

Key Points

  • Thalassemia intermedia was identified in a patient with compound heterozygosity for beta-thalassemia and fetal hemoglobin deletion.
  • Magnetic resonance imaging revealed significant iron deposition in the liver and associated complications.
  • Pedigree analysis confirmed the genetic inheritance pattern, necessitating early iron chelation treatment and regular assessments for non-transfusion-dependent patients with thalassemia .

Cite This Study

Wang et al. (2024) studied this question.

synapsesocial.com/papers/68e7509bb6db6435876c8b3ahttps://doi.org/10.1097/md.0000000000037446
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Also Consider

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

  1. 1Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia2025
  2. 2Prenatal Diagnosis of Compound Heterozygous Beta-Thalassemia: A Report of Two Cases2026
  3. 3Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report2025 · 1 citations
  4. 4Co-inheritance of Alpha & Beta-Thalassemia: Case Report of a Bangladeshi Individual2024
  5. 5Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA <sub>2</sub> Levels2026