Warghade Sandeep, Britto Jyothi, Haryan Reshma, Dalvi Tejaswi, Bendre Rajesh, Chheda Pratiksha, Matkar Sunmeet, Salunkhe Yogita, Chanekar Milind, Shah Nilesh
Department of Hematology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India.
Department of Molecular Pathology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India.
J Lab Physicians. 2018 Jan-Mar;10(1):73-79. doi: 10.4103/JLP.JLP_57_17.
Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders.
The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India.
A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The retention times, proportion of the hemoglobin (%) and the peak characteristics for all hemoglobin fractions were recorded. Molecular analysis of the beta-globin gene was carried out by DNA sequencing on eight cases.
Total number of abnormal Hb fractions on cation exchange-HPLC (CE-HPLC) was seen in 12,131 (18.44%) cases. Beta-thalassemia trait was the predominant genetic Hb disorder accounting for 7377 cases (11.21%) of the total cases. This was followed by sickle cell trait (2.01%), sickle cell disease (1.59%), beta-thalassemia syndrome (0.80%), HbE trait (0.79%), and borderline HbA (0.51%). Molecular characterization of eight rare cases of hemoglobin variants by beta-globin gene sequencing identified three cases of Hb Beth Israel, two cases of Hb Hofu trait, and one case each of Hb J Cambridge, Hb Mizunami, and Hb Sherwood Forest.
Superior resolution, rapid assay time, and accurate quantification make CE-HPLC suitable for the routine investigation of hemoglobinopathies.
血红蛋白病是世界上最常见的遗传性红细胞疾病。血红蛋白（Hb）变异体的筛查和准确鉴定在产前诊断和预防Hb疾病中变得越来越重要。
本研究的目的是筛查和鉴定印度中央参考实验室中普遍存在的Hb组分。
通过β地中海贫血短程序在伯乐Variant高效液相色谱（HPLC）系统上对总共65779例病例进行血红蛋白病筛查。记录所有血红蛋白组分的保留时间、血红蛋白比例（%）和峰特征。对8例病例进行β珠蛋白基因的分子分析，采用DNA测序法。
在12131例（18.44%）病例中观察到阳离子交换-HPLC（CE-HPLC）上异常Hb组分的总数。β地中海贫血特征是主要的遗传性Hb疾病，占总病例数的7377例（11.21%）。其次是镰状细胞特征（2.01%）、镰状细胞病（1.59%）、β地中海贫血综合征（0.80%）、HbE特征（0.79%）和临界HbA（0.51%）。通过β珠蛋白基因测序对8例罕见血红蛋白变异体病例进行分子表征，鉴定出3例Hb Beth Israel、2例Hb Hofu特征、1例Hb J Cambridge、1例Hb Mizunami和1例Hb Sherwood Forest。
CE-HPLC具有分辨率高、分析时间短和定量准确的特点，适用于血红蛋白病的常规检测。
