β-Thalassemia Major: Clinical Manifestations, Diagnosis, and Therapeutic Approach: A Clinical Case Study

الملخص

Background: β-thalassemia is an inherited hemoglobinopathy characterized by reduced or absent synthesis of the β-globin chains, with a high prevalence in populations of Mediterranean descent and a wider global distribution. We report the clinical case of a pediatric female patient with transfusion-dependent β-thalassemia major from western Libya. Her older sibling had been diagnosed with β-thalassemia major and subsequently underwent allogeneic bone marrow transplantation; both parents were identified as heterozygous carriers of the β-thalassemia trait.

Case Report: An 11-year-old girl from western Libya was diagnosed with homozygous β-thalassemia major, a genetic predisposition supported by confirmed parental carrier status. Owing to chronic anemia and ineffective erythropoiesis, the patient requires regular monthly red blood cell transfusions to maintain hematologic stability. Although allogeneic hematopoietic stem cell transplantation represents the only potentially curative intervention, its suitability is constrained by patient age, donor availability, comorbid conditions, and additional clinical factors.

Discussion: This report delineates the clinical and laboratory characteristics of β-thalassemia major in a patient from western Libya and summarizes the molecular pathogenesis of the disorder. β-thalassemia results from pathogenic variants in the β-globin gene (HBB) located on chromosome 11. Such mutations—including single-nucleotide substitutions, insertions, or deletions—reduce (β⁺) or completely abolish (β⁰) β-globin production, leading to diminished β-globin synthesis and consequent imbalance in hemoglobin assembly. Clinical manifestations typically emerge during childhood in individuals who inherit pathogenic variants from both carrier parents; in the present case, the patient's genotype is consistent with homozygous β-thalassemia major.

Conclusion: We discuss the hematologic and biochemical phenotype of this case and address the principal long-term complications of chronic transfusion therapy, particularly secondary iron overload and increased susceptibility to viral infections affecting both hepatic and extrahepatic sites. Finally, we review contemporary therapeutic approaches for β-thalassemia major and evaluate the potential utility of hematopoietic stem cell transplantation as a curative strategy for this patient.