Sachdev Ritesh, Dam Arpita R, Tyagi Gaurav
SRL Ranbaxy Pvt Ltd, Clinical Reference Lab, Sector-18, Udyog Vihar, Gurgaon, Haryana, India.
Indian J Pathol Microbiol. 2010 Jan-Mar;53(1):57-62. doi: 10.4103/0377-4929.59185.
Inherited abnormalities of hemoglobin synthesis include a myriad of disorders ranging from thalassemia syndromes to structurally abnormal hemoglobin variants. Identification of these disorders is immensely important epidemiologically and aid in prevention of more serious hemoglobin disorders.
High performance liquid chromatography (HPLC) forms an important tool for accurate and speedy diagnosis of various hemoglobin disorders. About 2600 cases have been studied for identification of various hemoglobin disorders in Indian population.
The study was performed on BIORAD VARIANT using beta thalassemia short program.
Abnormal hemoglobin fractions on HPLC were seen in 327 of the 2,600 cases displayed. Of this, the beta thalassemia trait was the predominant abnormality with a total of 232 cases (8.9%). There were 15(0.6%) cases of beta thalassemia major and 16 of thalassemia intermedia. The rest comprised of Hb D Punjab (13 cases; 0.5%), Elevated Hb F (25 cases; 0.9%), Hb E (seven cases including two Hb E homozygous and five Hb E heterozygous), Double heterozygous Hb E-beta thal trait (six cases), Hb Q India (five cases), Double heterozygous Hb Q India -beta thal trait (two cases), Hb S (total cases three including one Hb S homozygous; two Hb S -beta thal trait) and one case each of Hb J Meerut, Hb D-Iran and Hb Lepore trait. Detection of this abnormal hemoglobin, particularly keeping in mind a high prevalence of Hb A2, will help in prevention of more serious hemoglobinopathies including beta thalassemia major. HPLC forms a rapid and accurate tool in early detection and management of various hemoglobin disorders.
血红蛋白合成的遗传性异常包括从地中海贫血综合征到结构异常的血红蛋白变异体等众多疾病。从流行病学角度来看，识别这些疾病极为重要，有助于预防更严重的血红蛋白疾病。
高效液相色谱法（HPLC）是准确、快速诊断各种血红蛋白疾病的重要工具。已对约2600例病例进行研究，以识别印度人群中的各种血红蛋白疾病。
使用β地中海贫血短程序在BIORAD VARIANT上进行研究。
在显示的2600例病例中，有327例在HPLC上出现异常血红蛋白组分。其中，β地中海贫血特征是主要异常，共有232例（8.9%）。有15例（0.6%）重型β地中海贫血和16例中间型地中海贫血。其余包括Hb D Punjab（13例；0.5%）、Hb F升高（25例；0.9%）、Hb E（7例，包括2例Hb E纯合子和5例Hb E杂合子）、双重杂合子Hb E-β地中海贫血特征（6例）、Hb Q India（5例）、双重杂合子Hb Q India-β地中海贫血特征（2例）、Hb S（共3例，包括1例Hb S纯合子；2例Hb S-β地中海贫血特征）以及各1例Hb J Meerut、Hb D-Iran和Hb Lepore特征。检测到这种异常血红蛋白，尤其是考虑到Hb A2的高患病率，将有助于预防包括重型β地中海贫血在内的更严重的血红蛋白病。HPLC是早期检测和管理各种血红蛋白疾病的快速、准确工具。
