Thalassemia is a rare, complex disease, representing a group of disorders of hemoglobin synthesis that are characterized by reduced synthesis of either the alpha-globin or β-globin chains of the hemoglobin molecule. Defective synthesis of β-globin resulting from a variety of molecular defects causes β-thalassemia. Thalassemia is an autosomal recessive disorder, which requires prompt diagnosis and an appropriate treatment. Thorough clinical, radiographic and laboratory assessment helps in diagnosing thalassemia and any other hematological disorder. Here, two cases of β-thalassemia showing distinct features are presented and the importance of detailed work-up of the cases has been highlighted.
All Science Journal Classification (ASJC) codes
- Biochemistry, Genetics and Molecular Biology(all)