Hemoglobinopathies are the group of genetic disorders of hemoglobin in which there is a quantitative or qualitative abnormal production hemoglobin molecule. In India, beta-thalassemia is the most common autosomal recessively inherited monogenic disorder with approximately 30 million carrying the defective gene, with carrier frequency ranging from 3% to 17%.
Aim and Objective
1) Analyze laboratory aspects, namely, hematological profile and HPLC findings of the hemoglobin variants detected in Microcytic hypochromic anemia cases.
2) Discuss problems that faced in diagnosis of hemoglobinopathies in HPLC.
Method Material: 200 samples of microcytic hypochromic anemia patients were collected and analyzed on the Bio-Rad Variant II HPLC system with use of the Variant II β -Thalassemia Short Program Reorder Pack (Bio-Rad Laboratories). An Hb A2/F calibrator and two levels of controls (BIO-RAD) were analyzed at the beginning of each ru The software delivers a printed report showing the chromatogram, with all the hemoglobin fractions eluted. The integrated peaks are assigned to manufacturer-defined "windows" derived from specific retention time (RT).
Observations & Result: Out of 200, 34 cases displayed abnormal hemoglobin fractions on HPLC Majority case (16) of Beta thalassemia and secondly Sickle cell trait are diagnosed. Other Variant of Hemoglobinopathies like Sickle cell disease, Beta Thalassemia major, HbD Punjab trait, HbS/β-thal and HbE/β-thal also diagnosed.
Discussion: Thalassemia being the major concern in this study with 16 case of β-thalassemia trait and 4 cases of β- thalassemia major in our study. Early detection is very important to preventing birth of homozygous thalassemia major child by genetic counseling. In our present study 7 cases of sickle cell trait detected in anemic patients. Detection of sickle cell trait can be helpful in patients of the possible complications and the preventive measures to be taken.