Harrison Aradhana, Mashon Ranjeet Singh, Kakkar Naveen, Das Sheila
1Department of Pathology, Christian Medical College & Hospital, Brown Road, Ludhiana, Punjab 141008 India.
2HOD Hematopathology Section, Believers Church Medical College Hospital, St. Thomas Nagar, Kuttapuzha, Pathanamthitta, Thiruvalla, Kerala India.
Indian J Hematol Blood Transfus. 2018 Apr;34(2):299-303. doi: 10.1007/s12288-017-0864-2. Epub 2017 Aug 18.
Inherited hemoglobin disorders include thalassemias and structural variants like HbS, HbE, and HbD, Hb Lepore, HbD-Iran, Hb-H disease and HbQ India. HbQ India is an uncommon alpha-chain structural hemoglobin variant seen in North and West India. Patients are mostly asymptomatic and often present in the heterozygous state or co-inherited with beta-thalassaemia. This study was done in a tertiary care teaching hospital in North India over a period of 7 years among patients referred from antenatal and other clinics for screening of hemoglobin disorders. Complete blood count, peripheral blood smear examination and cation exchange high performance liquid chromatography (HPLC) was done to quantify various hemoglobins. HbQ India was diagnosed if the unknown variant hemoglobin was detected within the characteristic retention window. Of a total of 7530 patients screened, 31 (0.4%) were detected to have HbQ India. Of these, 25 (0.3%) patients had HbQ India trait and 6 (0.1%) patients had compound heterozygosity for HbQ India and Beta Thalassemia trait (HbQ India-BTT). All patients were clinically asymptomatic and were detected as part of the screening for hemoglobin disorders. Only two patients with HbQ India-BTT had hemoglobin less than 10 g/dL. In 25 patients with HbQ India trait, HbQ ranged from 13.6 to 24.4% and in 6 patients with HbQ India-BTT, HbQ India ranged from 7.4 to 9.0%. HbQ India is an uncommon structural hemoglobin variant. Although asymptomatic, it may cause diagnostic difficulty in the compound heterozygous state with beta thalassemia. HPLC provides a rapid, accurate and reproducible method for screening of this condition to identify and counsel individuals.
遗传性血红蛋白疾病包括地中海贫血和诸如血红蛋白S(HbS)、血红蛋白E(HbE)、血红蛋白D(HbD)、血红蛋白 Lepore、伊朗型血红蛋白D(HbD-Iran)、血红蛋白H病(Hb-H disease)以及印度型血红蛋白Q(HbQ India)等结构变异体。印度型血红蛋白Q是在印度北部和西部发现的一种罕见的α链结构血红蛋白变异体。患者大多无症状,常以杂合子状态出现或与β地中海贫血共同遗传。本研究在印度北部一家三级护理教学医院进行,为期7年,研究对象为来自产前诊所和其他诊所转诊来筛查血红蛋白疾病的患者。进行了全血细胞计数、外周血涂片检查和阳离子交换高效液相色谱法(HPLC)以定量各种血红蛋白。如果在特征保留窗口内检测到未知的变异血红蛋白,则诊断为印度型血红蛋白Q。在总共7530名接受筛查的患者中,有31名(0.4%)被检测出患有印度型血红蛋白Q。其中,25名(0.3%)患者具有印度型血红蛋白Q特征,6名(0.1%)患者为印度型血红蛋白Q和β地中海贫血特征的复合杂合子(印度型血红蛋白Q - BTT)。所有患者临床均无症状,是在血红蛋白疾病筛查中被检测出的。只有两名印度型血红蛋白Q - BTT患者的血红蛋白低于10 g/dL。在25名具有印度型血红蛋白Q特征的患者中,印度型血红蛋白Q的比例为13.6%至24.4%,在6名印度型血红蛋白Q - BTT患者中,印度型血红蛋白Q 的比例为7.4%至9.0%。印度型血红蛋白Q是一种罕见的结构血红蛋白变异体。虽然无症状,但在与β地中海贫血的复合杂合子状态下可能会导致诊断困难。HPLC为筛查这种情况以识别和咨询个体提供了一种快速、准确且可重复的方法。