Reproductive Outcome in Carrier Couples of β-Thalassemia Disorders in a Tertiary Hospital in Central India

Abstract

The β-thalassemia syndromes and hemoglobin disorders are the major genetic and public health challenges in Central India. In view of dubious credit of the highest infant mortality rate in Madhya Pradesh (62 as against 47 per 1000 live-births of India in 2011) it was presumed that carrier couples of β-thalassemia disorders might be one of the contributing factors to high mortality. A total of 280 couples including their offspring with at least one affected and/or suspected case of β-thalassemia/sickle cell disorders referred to our Centre from a tertiary hospital, Jabalpur during March 2010 to February 2013 were consecutively studied as matched case controls. Out of 280 couples, 200 were found normal and 80 couples had different β-thalassemia disorders. β-thalassemia carrier couples had significantly higher relative fertility (mean number of conceptions, i.e., 2.457 versus 1.480), higher infant mortality (3.5% versus 1.3%), higher below 10 years mortality (7.0% versus 2.7%) and lower surviving offspring (925.9 versus 970.6) than of controls. Still-births were three times lower (12.3), neonatal deaths almost two folds higher (24.7), three folds higher infant mortality (37.0) and almost three times higher below 10 years mortality per 1000 live-births were observed in carriers of β-thalassemia major than in controls. The present study indicated that afflicted couples of these hereditary disorders are increasing the afflicted offspring, being 60.7% surviving against controls (39.3%). This increased production of afflicted (heterozygous and homozygous) offspring leads to increased morbidity and mortality and might be contributing towards increased neonatal/infant mortality in Madhya Pradesh of Central India. As a preventive measure, affected families were imparted genetic/marriage counseling.