Identification of hemoglobin Q India (α 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.

The first use of EaeI restriction enzyme in DNA diagnosis of Hb Q‐India

“…3 and 6 had the lowest expression of the Hb variant, both of which were significantly below the average level. In case 6, this could be explained by the co‐inheritance of β‐thalassaemia, as described by Moiz et al. (2008).…”

HB Q India in Two Sindhi Hindu Families of Sindh

“…It is found in western and northern India and in Sindhi families predominantly [8]. A previous study in Pakistan reported this variant in various ethnic groups while highest frequency found among sindhi population [9]. Our report aims to highlight the presence of Hb Q India in Sindhi Hindus which was found incidentally on haemoglobinopathy screening.…”

Hemoglobin E syndromes in Pakistani population

“…Various hemoglobinopathies have been reported from this country [19] including alpha [20] and beta thalassaemia [21,22], sickle cell disorders [23], Hb D [24,25], Hb Q [26]and other rare variants [27]. Sporadic cases of HbE have been reported from Pakistanis living in United Kingdom [6,28] but the information regarding HbE for the country remains fragmentary hitherto.…”