Moiz Bushra, Moatter Tariq, Hashmi Mashhooda Rasool, Hashmi Nazish, Kauser Toheed, Nasir Amna, Khurshid Mohammad
Department of Pathology and Microbiology, The Aga Khan University Hospital, Karachi, Pakistan.
Ann Hematol. 2008 May;87(5):385-9. doi: 10.1007/s00277-007-0431-2. Epub 2008 Jan 12.
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.
除了像血红蛋白Q印度这样罕见的类型外，巴基斯坦已报道了各种血红蛋白病。我们的研究目的是通过扩增限制突变系统-聚合酶链反应（ARMS-PCR）在经高效液相色谱（HPLC）检测出血红蛋白Q的患者中鉴定突变（α1 64位天冬氨酸突变为组氨酸），并评估这两种技术的成本效益。对2006年1月1日至2007年1月30日期间接受HPLC以鉴定其血红蛋白变异体的所有患者（不分年龄和性别）进行了研究。对保留时间为4.7分钟时出现未知峰的血样进行了分子水平评估。在13个月期间对11,008名受试者的HPLC图谱分析确定了10名患有血红蛋白Q的个体。男女比例为1:1.5，年龄范围从1岁到49岁（平均22.8岁）。平均血红蛋白水平为11.3 g/dl，而平均红细胞体积（fl）和平均红细胞血红蛋白含量（pg）分别为73.0和20.8。HPLC显示17.7%的未知峰被检测为Hb Q。基于ARMS的PCR显示这些样本中Hb Q特异性产物为370 bp，还有一个766 bp的扩增产物作为对照片段。这是有史以来第一份记录巴基斯坦人群中存在血红蛋白Q印度（α64位天冬氨酸突变为组氨酸）的报告。我们建议将HPLC用作一种有用的筛查工具，特别是在那些可能无法获得PCR设施的发展中国家。
