Detection of the Hb Hoshida ( HBB: C. 130 G > C ) Variant in the Indian Population

). -window peak (47.1%) with normal red cell indices, raising suspicion of a rare structural variant. Subsequent Sanger sequencing identified heterozygous Hb-Hoshida, and family studies confirmed it was paternally inherited. Prenatal diagnosis by chorionic villus sampling revealed compound heterozygosity for Hb-Hoshida and β-thalassemia in the fetus. After genetic counseling about the uncertain clinical implications of this previously unreported genotype, the couple elected to terminate the pregnancy. In a subsequent pregnancy, prenatal testing showed that the fetus had not inherited either parental mutation, and the pregnancy progressed normally. The identification of this rare variant emphasizes the need for cautious interpretation of hemoglobinopathy screening results in genetically heterogeneous populations and has important implications for genetic counseling and prenatal management.