Antenatal Screening for Hemoglobinopathies with HPLC

Abstract

Introduction: Hemoglobinopathies are the most commonly encountered monogenic disorders of blood in Southeast Asia and Indian subcontinent. Screening of individuals at increased risk of being carriers for thalassemia and hemoglobinopathies, can identify couples with a 25% risk of having a pregnancy with a significant genetic disorder, for which prenatal diagnosis is possible. This study is done to know the prevalence of hemoglobinopathies and variant of haemoglobin using cation exchange high performance liquid chromatography (CEHPLC). Materials and Methods: 2 ml of venous blood was collected in EDTA vials from the pregnant mothers after informed consent. The blood was subjected to complete hemogram, peripheral blood smear and HPLC using Variant Hemoglobin Testing System (BioRad Laboratories). Beta Thalassemia short programme was used. Descriptive analysis was done and data is presented in numbers and percentages. Results: 467 blood samples from various ethnic groups were evaluated. 70 (14.99%) samples showed features of hemoglobinopathies by HPLC. There were 46 (9.85%) cases of HbE heterozygous,12 (2.57%) cases of HbE homozygous, 9(1.93%) cases of Beta Thalassemia Trait, 2 (0.43%) cases of double heterozygous and 1 (0.21%) case of Hb-D Iran. Conclusion: This study showed a high prevalence of hemoglobinopathies in antenatal mothers necessitating an appropriate screening strategy for antenatal mothers. We also concluded that HPLC is a sensitive technique for studying hemoglobinopathies during pregnancy and may be utilized for screening.