title: Frequency of haemoglobinopathies: a single-centre, cross-sectional study from Islamabad, Pakistan.
abstract: Thalassaemia is the most frequent hereditary disorder in Pakistan, with an estimated 8-10 million carriers. This single-centre study reported the frequency of haemoglobinopathies among 504 consecutive cases visiting Islamabad Diagnostic Centre for haemoglobin electrophoresis from July 2010 to February 2011. Haemoglobin electrophoresis was performed on cellulose acetate membrane, followed by staining and densitometric scanning of bands. A total of 143 (28.4%) subjects had haemoglobinopathies. The most predominant was thalassaemia trait (25.6%), followed by thalassaemia major (1.4%) and HbS or HbD (1.4%). The gene frequencies for thalassaemia trait and major were 0.256 and 0.0139 respectively. The study provides support for continuing efforts towards early detection and characterization of haemoglobinopathies to control the affected births in Pakistan.
authors.affiliation: Department of Biochemistiy, Quaid-i-Azam University, Islamabad, Pakistan. usman.waheed07@gmail.com
authors.forename: U
authors.initials: U
authors.lastname: Waheed
authors.forename: H S
authors.initials: HS
authors.lastname: Satti
authors.forename: N
authors.initials: N
authors.lastname: Farooq
authors.forename: H A
authors.initials: HA
authors.lastname: Zaheer
mesh_terms: D001797:Blood Protein Electrophoresis; D003430:Cross-Sectional Studies; D005787:Gene Frequency; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D010154:Pakistan / Q000453:epidemiology; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics
chemical_list: D006454:Hemoglobins