title: Hemoglobinopathy in India.
abstract: OBJECTIVE
  Variations in hemoglobin structure as well as number of globin chains give rise to a wide spectrum of heritable disorders. As such, their detection is significant from epidemiological perspective, especially in India in which there is a large multi-cultural population with distinct geographic distribution. Although a few variants present severe clinical symptoms in homozygotes, co-existence of heterozygous mutants can lead to deleterious conditions. The aim of the present study is to provide an overview on the prevalence of different hemoglobinopathies among Asian Indians.
  
  
  METHODS
  A large cohort of samples from all regions of India was analyzed by high performance liquid chromatography (HPLC) (n=25,297) and capillary electrophoresis (CE) (n=21,219).
  
  
  RESULTS
  Using HPLC, 8029 hemoglobin variants were detected. HbS trait was detected at the highest frequency (33.03%), principally from the Chattisgarh region. Using CE, 6524 variants were detected. HbS trait, again, represented the most common mutation (25.67%). A total of 40 variants including compound heterozygous cases were detected by HPLC and CE.
  
  
  CONCLUSIONS
  Our report is one of the few to analyze a large cohort and report on the spectrum of hemoglobin variants in India.
authors.affiliation: Hematology Division, Thyrocare Technologies Limited, Plot No. D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, 400703, India. Electronic address: sandhya.iyer@thyrocare.com.
authors.forename: Sandhya
authors.initials: S
authors.lastname: Iyer
authors.affiliation: Hematology Division, Thyrocare Technologies Limited, Plot No. D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, 400703, India.
authors.forename: Suhas
authors.initials: S
authors.lastname: Sakhare
authors.affiliation: Hematology Division, Thyrocare Technologies Limited, Plot No. D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, 400703, India.
authors.forename: Caesar
authors.initials: C
authors.lastname: Sengupta
authors.affiliation: Hematology Division, Thyrocare Technologies Limited, Plot No. D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, 400703, India.
authors.forename: A
authors.initials: A
authors.lastname: Velumani
mesh_terms: D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D019075:Electrophoresis, Capillary; D014644:Genetic Variation / Q000235:genetics; D006453:Hemoglobinopathies / Q000453:epidemiology* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology
chemical_list: D006454:Hemoglobins
keywords: Anemia; Hemoglobinopathy; India; Thalassemia