title: Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
abstract: BACKGROUND
  Sickle cell disease (SCD) is a major health burden in India. The objective of the study was to establish a neonatal screening program and to understand the clinical course of children with SCD in central India.
  
  
  RESULTS
  Pregnant mothers were screened for sickle hemoglobin using the solubility test. Babies were screened by high performance liquid chromatography if the mother was positive for sickle hemoglobin. The diagnosis was confirmed by molecular analysis. They received early prophylactic treatment and vaccination. Of 2134 newborns screened, 104 were sickle homozygous (SS), seven had sickle β-thalassemia (S-β thal) and 978 were sickle heterozygous (AS). The other hemoglobin abnormalities detected included HbS-δβ thalassemia-1, HbSD disease-2, HbE traits-5, β-thalassemia traits-4, alpha chain variants-3 and HbH disease-1.These babies were followed up regularly for hematological and clinical evaluation. Pain, severe anemia requiring blood transfusions and acute febrile illness were the major complications with 59.7, 45.1 and 42.6 cases per 100 person years. Fetal hemoglobin (HbF) levels were inversely associated with vaso-oclussive crisis (VOC) and severe anemia while presence of alpha thalassemia increased the rate of painful events and sepsis. Six early deaths occurred among the SS babies.
  
  
  CONCLUSIONS
  A systematic follow up of this first newborn SCD cohort in central India showed that 47% of babies presented within 1 year of age. In spite of the presence of the Arab-Indian haplotype many babies had severe manifestations.
authors.affiliation: National Institute of Immunohematology, (Indian Council of Medical Research), 13th floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai, 400012, India.
authors.forename: Dipti S
authors.initials: DS
authors.lastname: Upadhye
authors.affiliation: Government Medical College, Nagpur, 440003, India.
authors.forename: Dipty L
authors.initials: DL
authors.lastname: Jain
authors.affiliation: Government Medical College, Nagpur, 440003, India.
authors.forename: Yogesh L
authors.initials: YL
authors.lastname: Trivedi
authors.affiliation: National Institute of Immunohematology, (Indian Council of Medical Research), 13th floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai, 400012, India.
authors.forename: Anita H
authors.initials: AH
authors.lastname: Nadkarni
authors.affiliation: National Institute of Immunohematology, (Indian Council of Medical Research), 13th floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai, 400012, India.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: National Institute of Immunohematology, (Indian Council of Medical Research), 13th floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai, 400012, India.
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology / Q000401:mortality; D000986:Antisickling Agents / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use*; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010641:Phenotype; D011247:Pregnancy; D015996:Survival Rate; D016896:Treatment Outcome
chemical_list: D000986:Antisickling Agents; D006918:Hydroxyurea