Identification of the hot-spot areas for sickle cell disease using cord blood screening at a district hospital: an India
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Identification of the hot-spot areas for sickle cell disease using cord blood screening at a district hospital: an Indian perspective Sujata Dixit 1 & Pushpansu Sahu 2 & Shantanu Kumar Kar 1 & Sapna Negi 1
Received: 16 January 2015 / Accepted: 16 March 2015 # Springer-Verlag Berlin Heidelberg 2015
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.
Keywords Cord blood screening . Sickle cell . Area specific . District hospital
* Sapna Negi [email protected] 1
Regional Medical Research Centre (ICMR), Chandrasekharpur, Bhubaneswar, Odisha, India
2
Kalahandi District Hospital, Bhawanipatna, Kalahandi, Odisha, India
Introduction Study of genetic epidemiology has been a great challenge specifically in India with huge amount of genetic heterogeneity (Bittles 2002). Reason for this heterogeneity is diverse population structures, culture, and traditions in urban, rural, and tribal populations. This leads to differences in areaspecific prevalence of genetic diseases. At the same time, the diverse Indian terrain makes it difficult to study and conduct a screening activity specifically in tribal populations residing at hard-to-reach areas and with variable traditions. The inherited disorders of hemoglobin like sickle cell and β-thalassemia are the commonest monogenic disorders causing major health problem. With a population of over 1.25 billion individuals, it is estimated that India is home to over 50 % of the world’s sickle cell disease (SCD) patients (Shrikhande et al 2014; Kate and Lingojwar 2002). As per the hospital data, the prevalence of sickle gene is found to be 0–18 % in north eastern India, 0–33.5 % in western India, 22.5–44.4 % in central India, and 1–40 % in southern India (Gorakshakar 2006). Sickle cell is specifically prevalent in some ethnic groups because they have practiced or are practicing endogamy (Shrikhande et al 2014). The prevalence of sickle cell disease in a community survey was found to be 3.03 %
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