title: Feasibility of a newborn screening and follow-up programme for sickle cell disease among South Gujarat (India) tribal populations.
abstract: OBJECTIVE
  To evaluate the feasibility of a newborn screening and follow-up programme for sickle cell disease (SCD) among tribal populations of south Gujarat, India.
  
  
  METHODS
  A total of 5467 newborn babies were screened over 2 years using High-performance liquid chromatography, with diagnosis by molecular analysis. The SCD babies were followed-up clinically and haematologically regularly for 1.5 to 5 years to describe the course of the disease.
  
  
  RESULTS
  Thirty-three babies (0.60%) were sickle homozygous, 13 (0.23%) were-sickle-β-thalassaemia, 687 (12.5%) were sickle heterozygous, and 4736 were unaffected. The parents of SCD babies were educated and counselled for home care. There were 32 babies (69.5%) who could be clinically and haematologically followed-up; 7 babies (21.8%) presented with severe clinical complications, whereas 18 (56.2%) babies were asymptomatic till the last follow-up. The variation in clinical presentation was seen in spite of the presence of ameliorating factors, such as high fetal haemoglobin, Xmn-I polymorphism, and α-thalassaemia.
  
  
  CONCLUSIONS
  In addition to demonstrating the possibility of establishing a newborn screening programme for sickle cell disorders among tribal populations, this study has shown that the disease is not always mild among tribal groups in India, as previously believed. There is a need, therefore, for increasing awareness among these tribal groups about the disease, and for regular monitoring of affected babies to reduce morbidity and mortality and to understand the natural course of the disease.
authors.affiliation: Valsad Raktdan Kendra, Valsad 396001, India.
authors.forename: Yazdi
authors.initials: Y
authors.lastname: Italia
authors.affiliation: Children's Hospital of Pittsburgh of UPMC, 4401 Penn Ave, Pittsburgh, PA 15224, United States.
authors.forename: Lakshmanan
authors.initials: L
authors.lastname: Krishnamurti
authors.affiliation: Valsad Raktdan Kendra, Valsad 396001, India.
authors.forename: Vishal
authors.initials: V
authors.lastname: Mehta
authors.affiliation: Valsad Raktdan Kendra, Valsad 396001, India.
authors.forename: Bhavesh
authors.initials: B
authors.lastname: Raicha
authors.affiliation: National Institute of Immunohaematology, 13 Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors.forename: Khushnooma
authors.initials: K
authors.lastname: Italia
authors.affiliation: National Institute of Immunohaematology, 13 Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors.forename: Pallavi
authors.initials: P
authors.lastname: Mehta
authors.affiliation: National Institute of Immunohaematology, 13 Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: National Institute of Immunohaematology, 13 Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India colahrb@gmail.com.
authors.forename: Roshan
authors.initials: R
authors.lastname: Colah
mesh_terms: D000755:Anemia, Sickle Cell / Q000208:ethnology*; D002851:Chromatography, High Pressure Liquid; D005500:Follow-Up Studies; D006529:Hepatomegaly / Q000208:ethnology; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening; D015995:Prevalence; D012805:Sickle Cell Trait / Q000208:ethnology; D013163:Splenomegaly / Q000208:ethnology; D013789:Thalassemia / Q000208:ethnology*
keywords: newborn screening; sickle cell disease; tribal population; western India