CONSANGUINITY AND ITS CONSEQUENCES DIFFERENTIAL IMPACT ON HEMOGLOBINOPATHY PREVALENCE IN PEDIATRIC POPULATIONS

Abstract

Consanguinity, defined as a union between individuals sharing a common ancestor within four generations (coefficient of inbreeding F ≥ 0.0156), remains a deeply embedded sociocultural practice across South Asia. In Pakistan, consanguineous unions account for over 65% of all marriages, with first‑cousin unions alone constituting approximately 50–60% one of the highest rates globally [1,2]. The practice is particularly prevalent in Punjab, where Lahore serves as the primary tertiary care hub for a population exceeding 12 million and for a vast hinterland with limited specialized pediatric hematology services. Despite decades of public health messaging, consanguinity rates have remained stable, driven by socioeconomic, religious, and tribal factors, and are paradoxically higher among educated urban cohorts [3]. The genetic consequences of elevated inbreeding are most starkly manifested in the high incidence of autosomal recessive disorders. Hemoglobinopathies predominantly β‑thalassemia major, sickle cell disease (SCD), and hemoglobin E (HbE) syndromes are the most common monogenic disorders in Pakistan, with an estimated carrier frequency of 5–7% for β‑thalassemia and 1–3% for sickle cell trait in certain ethnic groups [4,5].