title: Premarital genetic screening for beta thalassemia carrier status of indexed families using HbA2 electrophoresis.
abstract: OBJECTIVE
  To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families.
  
  
  METHODS
  The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood Care Centre, Abbottabad, in Pakistan's Khyber Pakhtunkhwa province. Electrophoretic separation of human haemoglobin like A, F, S and C was done and then haemoglobin in the gel was immobilised in a fixative solution and the gel was dried to a film. Haemoglobin pattern was visualised by staining the film with a protein-specific stain. The pattern was quantified by densitometry.
  
  
  RESULTS
  Of the 98 samples, 57(58.2%) had b-thalassemia trait with elevated haemoglobin alpha 2 level, and 41(41.8%) had normal level. Out of the 57 carriers, 33(57.89%) were males and 24(42.10%) were females. Mean age of carriers was 11.65±6.25 years compared to 10.93±7.75 in normal patients. Mean haemoglobin alpha 2 level of carriers was 5.2±0.56% compared to 2.34±0.57% in normal subjects.
  
  
  CONCLUSIONS
  Carrying out mass screening programmes throughout Pakistan for the detection of thalassemia carriers and providing them the benefit of marriage counselling may decrease the incidence of thalassemia Major.
authors.affiliation: Department of Genetics, Hazara University, Mansehra, Pakistan.
authors.forename: Aneeqa
authors.initials: A
authors.lastname: Nosheen
authors.affiliation: Department of Genetics, Hazara University, Mansehra, Pakistan.
authors.forename: Habib
authors.initials: H
authors.lastname: Ahmad
authors.affiliation: Rehman Medical College, Khyber Pakhtunkhwa, Peshawar, Pakistan.
authors.forename: Iftikhar
authors.initials: I
authors.lastname: Qayum
authors.affiliation: Pathology Department, Ayub Medical College Abbottabad, Pakistan.
authors.forename: Noaman
authors.initials: N
authors.lastname: Siddiqui
authors.affiliation: Department of Genetics, Hazara University, Mansehra, Pakistan.
authors.forename: Fida Muhammad
authors.initials: FM
authors.lastname: Abbasi
authors.affiliation: Department of Genetics, Hazara University, Mansehra, Pakistan.
authors.forename: Muhammad Sajjad
authors.initials: MS
authors.lastname: Iqbal
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004586:Electrophoresis; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010154:Pakistan; D011291:Premarital Examinations; D055815:Young Adult; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control
keywords: Thalassemia, Newborns, Indexed families.