Co-inheritance of hemoglobin D-Punjab and beta thalassemia: Familial case study highlighting the clinical relevance and the need for premarital screening

ABSTRACT: Hemoglobinopathies are a common cause of anemia in the northwestern part of India. Although heterozygosity for hemoglobin (Hb) D-Punjab is common, a compound heterozygous state for Hb D-Punjab and beta (β)-thalassemia is quite rare. Here, we report two family studies in which children inherited defective genes from carrier parents and manifested clinically significant compound heterozygous (Hb D/β-thalassemia) and homozygous (β-thalassemia major) states. This study underscores the growing need to enhance awareness regarding the largely unchanged prevalence of clinically significant hemoglobinopathies. It further highlights the importance of a comprehensive diagnostic approach, including molecular analysis for the identification of rare variants, and emphasizes the significance of premarital and population-based screening.