Identification of the hot-spot areas for sickle cell disease using cord blood screening at a district hospital: an Indian perspective

Abstract

Abstracts Sickle cell disease (SCD), a genetic disorder often reported late, can be identified early in life, and hot-spot areas may be identified to conduct genetic epidemiology studies. This study was undertaken to estimate prevalence and to identify hot spot area for SCD in Kalahandi district, by screening cord blood of neonates delivered at the district hospital as firsthand information. Kalahandi District Hospital selected for the study is predominated by tribal population with higher prevalence of SCD as compared to other parts of Odisha. Cord blood screening of SCD was carried out on 761 newborn samples of which 13 were screened to be homozygous for SCD. Information on area of parent's residence was also collected. Madanpur Rampur area was found to be with the highest prevalence of SCD (10.52 %) and the gene distribution did not follow Hardy-Weinberg Equation indicating unnatural selection. The approach of conducting neonatal screening in a district hospital for identification of SCD is feasible and appropriate for prioritizing area for the implementation of large-scale screening and planning control measures thereof.

Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India

“…Thirteen of the 761 newborns screened were homozygous for sickle cell disease. This study showed the feasibility of undertaking newborn screening in a district hospital which helped to identify a hot spot area for sickle cell disease in this region [ 19 ].…”

Sickle Hepatopathy

“…However, rarely, renal replacement therapy may be needed. Ahn et al 22 in a review of 22 cases, with acute intrahepatic cholestasis presenting as liver failure, showed good response in 8 of 9 patients with exchange transfusion. One patient who did not respond died after liver transplantation.…”

“…20 Figure 1 summarizes district-wise distribution of the sickle cell gene among tribal populations in different states of India. The high prevalence of the b s allele frequency within scheduled groups is probably due to a combination of three factors: (i) a potentially greater selection pressure on these groups from malaria; 21 (ii) the high rate of endogamy is observed in the scheduled group; 22 (iii) a competitive evolutionary exclusion of b s occurs in certain nonscheduled groups. 23,24 The sickle cell carrier frequency in the scheduled population ranges from 1 to 40%, whereas that in the nonscheduled population is usually <5%.…”

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

“…Religious restrictions compounded by the geographical isolation of some Indian habitats due to the country's diverse topography have contributed significantly to a relatively higher rate of inbreeding (population-inbreeding coefficient of India = 0.00-0.20) and, thus, served as barriers to random mating and free gene flow leading to the distinct gene pool of the Indian sub-populations (Bittles et al, 2002). In parallel, there is also a relatively higher burden of specific diseases (Bittles, 2002a;Mcelreavey et al, 2005;Pradhan et al, 2011;Dixit et al, 2015). A list of some of the disease-associated founder variations determined from the Indian population has been indicated in Table 2 Table 3).…”