Study to identify the role of high performance liquid chromatography in detecting haemoglobinopathies in antenatal patients

Introduction: Haemoglobinopathy is a major genetic public health problems in India, responsible for significant morbidity and mortality. Individuals with trait (carriers) are healthy and unaware of their carrier status unless specifically screened. If a couple carry a clinically significant haemoglobinopathy trait there is a 1 in 4 chance with each pregnancy that their child will inherit a major haemoglobinopathy. The most effective approach to reduce the burden of the society is to reduce the incidence by implementation of a carrier screening programme. Material and Methods: The present study was carried out in a tertiary care hospital for a period of 2 years. 500 Antenatal patients attending Obstetric-out patient department for routine check-up were included in the study. Screening of patient was done by Solubility test, Sickling test and Alkali denaturation test. Finally a very standardized method to detect HbA2 and HbF was done by using an automated High Performance Liquid Chromatography. Results: Out of a total of 500 pregnant women 4% were having haemoglobinopathies, whereas 96% had normal haemoglobin. Out of 20 cases, maximum number of cases i.e. 2.2% was of β –Thalassemia trait, followed by Sickle cell trait cases i.e. 1.2%. Other haemoglobinopathies are also found i.e. sickle cell disease 0.2% δβ Thalassemia case 1.2% and double heterozygous 0.2%.Out of a total of 20 positive pregnant women only partners of 8 women were screened and out of them 37.5% were found positive. Conclusion: Detection of carrier status using HPLC during pregnancy along with couple screening provides prospective parents with the option of testing the fetus for hemoglobinopathy.