Moorchung Nikhil, Phillip Joseph, Sarkar Ravi Shankar, Prasad Rupesh, Dutta Vibha
Department of Pathology and Transfusion Medicine, Armed Forces Medical College, Pune, Maharashtra, India.
Indian J Pathol Microbiol. 2013 Jan-Mar;56(1):36-9. doi: 10.4103/0377-4929.116146.
Hemoglobinopathies constitute entities that are generated by either abnormal hemoglobin or thalassemias. high pressure liquid chromatography (HPLC) is one of the best methods for screening and detection of various hemoglobinopathies but it has intrinsic interpretive problems. The study was designed to evaluate the different mutations seen in cases of hemoglobinopathies and compare the same with screening tests.
68 patients of hemoglobinopathies were screened by HPLC. Mutation studies in the beta globin gene was performed using the polymerase chain reaction (PCR)-based allele-specific Amplification Refractory Mutation System (ARMS). Molecular analysis for the sickle cell mutation was done by standard methods.
The IVS 1/5 mutation was the commonest mutation seen and it was seen in 26 (38.23%) of the cases. This was followed by the IVS 1/1, codon 41/42, codon 8/9, del 22 mutation, codon 15 mutation and the -619 bp deletion. No mutation was seen in eight cases. There was a 100% concordance between the sickle cell trait as diagnosed by HPLC and genetic testing.
Our study underlies the importance of molecular testing in all cases of hemoglobinopathies. Although HPLC is a useful screening tool, molecular testing is very useful in accurately diagnosing the mutations. Molecular testing is especially applicable in cases with an abnormal hemoglobin (HbD, HbE and HbS) because there may be a concomitant inheritance of a beta thalassemia mutation. Molecular testing is the gold standard when it comes to the diagnosis of hemoglobinopathies.
血红蛋白病是由异常血红蛋白或地中海贫血引起的疾病。高效液相色谱法（HPLC）是筛查和检测各种血红蛋白病的最佳方法之一，但它存在内在的解释问题。本研究旨在评估血红蛋白病病例中发现的不同突变，并将其与筛查试验进行比较。
对68例血红蛋白病患者进行HPLC筛查。使用基于聚合酶链反应（PCR）的等位基因特异性扩增不应突变系统（ARMS）对β珠蛋白基因进行突变研究。采用标准方法对镰状细胞突变进行分子分析。
IVS 1/5突变是最常见的突变，在26例（38.23%）病例中出现。其次是IVS 1/1、密码子41/42、密码子8/9、del 22突变、密码子15突变和-619 bp缺失。8例未发现突变。HPLC诊断的镰状细胞性状与基因检测之间的一致性为100%。
我们的研究强调了分子检测在所有血红蛋白病病例中的重要性。虽然HPLC是一种有用的筛查工具，但分子检测对于准确诊断突变非常有用。分子检测特别适用于血红蛋白异常（HbD、HbE和HbS）的病例，因为可能同时存在β地中海贫血突变的遗传。在血红蛋白病的诊断方面，分子检测是金标准。
