First Report of Hb Oslo [HBB:c.127T>A; β42(CD1)Phe→Ile] from India and its Novel Compound Heterozygous Combination with IVS1-5 G>C [HBB:c.92+ 5G> C] Leading To β-Thalassemia Major.

Abstract excerpt

Beta-thalassemia (β-thalassemia) is one of the most common inherited hemoglobinopathy caused by mutations in the HBB gene and presents with a wide clinical spectrum ranging from asymptomatic to transfusion-dependent forms. We reported the first documented case of the rare Hb Oslo variant [HBB:c.127T >A; β42(CD1)Phe→Ile] in an Indian family and only the second reported case of Hb Oslo globally. Homology-based 3D...

Topics

• Humans
• beta-Thalassemia
• India
• Hemoglobins, Abnormal
• Heterozygote
• Mutation
• Male
• beta-Globins
• Female
• Models, Molecular
• Pedigree