title: Identification of hemoglobin Q India (alpha 1-64 Asp-His) through ARMS-PCR. First report from Pakistan.
abstract: Various hemoglobinopathies have been reported from Pakistan excepting the rare ones like hemoglobin Q India. Our purpose of study was to identify the mutation (alpha 1 64 aspartate to histidine) through amplification restriction mutation system-polymerase chain reaction (ARMS-PCR) in patients where hemoglobin Q has been detected via high performance liquid chromatography (HPLC) and also to evaluate the cost effectiveness of the two technologies. All patients irrespective of age and gender who underwent HPLC for identification of their hemoglobin variant during January 1, 2006 to January 30, 2007 were studied. The blood samples with unknown peak at a retention time of 4.7 min were evaluated at the molecular level. Analysis of HPLC tracings of 11,008 subjects over a thirteen-month period identified ten individuals with hemoglobin Q. Male to female ratio was 1:1.5 and their age was variable ranging from 1 to 49 (mean 22.8) years. The mean hemoglobin level was 11.3 g/dl while MCV (fl) and MCH (pg) were 73.0 and 20.8 respectively. HPLC showed an unknown peak of 17.7% which was detected as Hb Q. ARMS based PCR showed Hb Q specific product of 370 bp and also an amplified product of 766 bp as the control fragment in these samples. This is the first ever report that documents the presence of Hb Q India (alpha 64 Asp to His) in Pakistani population. We recommend that HPLC be used as a useful screening tool especially in developing countries where PCR facilities may not be accessible.
authors.affiliation: Department of Pathology and Microbiology, The Aga Khan University Hospital, Karachi, Pakistan. bushra.moiz@aku.edu
authors.forename: Bushra
authors.initials: B
authors.lastname: Moiz
authors.forename: Tariq
authors.initials: T
authors.lastname: Moatter
authors.forename: Mashhooda Rasool
authors.initials: MR
authors.lastname: Hashmi
authors.forename: Nazish
authors.initials: N
authors.lastname: Hashmi
authors.forename: Toheed
authors.initials: T
authors.lastname: Kauser
authors.forename: Amna
authors.initials: A
authors.lastname: Nasir
authors.forename: Mohammad
authors.initials: M
authors.lastname: Khurshid
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D010154:Pakistan / Q000453:epidemiology; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C048600:hemoglobin Q India