title: Hemoglobin E syndromes in Pakistani population.
abstract: BACKGROUND
  Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E disorders based on hematological parameters and chromatography. The sub-aim was to characterize hemoglobin E at molecular level.
  
  
  METHODS
  This was a hospital based study conducted prospectively for a period of one year extending from January 1 to December 31, 2008. EDTA blood samples were analyzed for completed blood counts and hemoglobin variants through automated hematology analyzer and Bio-Rad beta thalassaemia short program respectively. Six samples were randomly selected to characterize HbE at molecular level through RFLP-PCR utilizing MnlI restriction enzyme.
  
  
  RESULTS
  During the study period, 11403 chromatograms were analyzed and Hb E was detected in 41 (or 0.36%) samples. Different hemoglobin E syndromes identified were HbEA (n = 20 or 49%), HbE/β-thalassemia (n = 14 or 34%), HbEE (n = 6 or 15%) and HbE/HbS (n = 1 or 2%). Compound heterozygosity for HbE and beta thalassaemia was found to be the most severely affected phenotype. RFLP-PCR utilizing MnlI successfully characterized HbE at molecular level in six randomly selected samples.
  
  
  CONCLUSIONS
  Various HbE phenotypes are prevalent in Pakistan with HbEA and HbE/β thalassaemia representing the most common syndromes. Chromatography cannot only successfully identify hemoglobin E but also assist in further characterization into its phenotype including compound heterozygosity. Definitive diagnosis of HbE can easily be achieved through RFLP-PCR.
authors.affiliation: Department of Pathology and Microbiology, The Aga Khan University Hospital, Stadium road, Karachi 74800, Pakistan. bushra.moiz@aku.edu.
authors.forename: Bushra
authors.initials: B
authors.lastname: Moiz
authors.forename: Mashhooda Rasool
authors.initials: MR
authors.lastname: Hashmi
authors.forename: Amna
authors.initials: A
authors.lastname: Nasir
authors.forename: Anila
authors.initials: A
authors.lastname: Rashid
authors.forename: Tariq
authors.initials: T
authors.lastname: Moatter