title: Molecular characterization of alpha-thalassemia in Pakistan.
abstract: Common alpha-thalassemia (thal) rearrangements were studied in a normal random population and in six ethnic groups of Pakistan. Analyses of 204 individuals from the normal population revealed the presence of only the -alpha(3.7) allele with an overall frequency of 8.3%. Ethnic differences were statistically significant for Pashtoon vs. Balochi (p < 0.0005) and Pashtoon vs. Sindhi (p < 0.002). Two hundred and eighty-five thalassemia patients were also studied to identify rare alpha-thal alleles. In this group, 24.6% of the patients had one or two alpha genes deleted. Two rare alleles in the Pakistani population, -alpha(4.2) (0.2%) and alphaalphaalpha(anti3.7) (0.9%), were identified in these patients. The -alpha(4.2) allele was found only in Sindhis, while alphaalphaalpha(anti3.7) was present in Punjabis, Sindhis and Balochis. Five patients with triplicated alpha genes were homozygous for either the beta+ or the beta(0) genotype.
authors.affiliation: Centre for Applied Molecular Biology, University of the Punjab, Thokar Niaz Baig, Lahore, Pakistan. snkhan52@hotmail.com
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.forename: Farrukh
authors.initials: F
authors.lastname: Hasan
authors.forename: Carla
authors.initials: C
authors.lastname: Sollaino
authors.forename: Luciana
authors.initials: L
authors.lastname: Perseu
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
mesh_terms: D004252:DNA Mutational Analysis; D005006:Ethnicity; D017353:Gene Deletion; D020440:Gene Duplication; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics; D006801:Humans; D017720:Molecular Epidemiology; D010154:Pakistan / Q000453:epidemiology / Q000208:ethnology; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins