Antenatal Screening for Hemoglobinopathies with HPLC

Abstract

Summary: Hemoglobinopathies are a group of genetic disorders of hemoglobin with 1.5 % of the world's population being carriers of beta thalassemia. This hospital based study in antenatal mothers is done to ascertain the prevalence of hemoglobinopathies and thalassemia carriers. The prevalence is 14.99 % with HbE heterozygous being the commonest (10.06 %). 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 hemoglobin using cation exchange high performance liquid chromatography (CEHPL) 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. Results: 467 blood samples from various ethnic groups were evaluated .70 (14.99 %) samples showed features of hemoglobinopathies by HPLC. There were 47(10.06 %) cases of HbE heterozygous, 12(2.57 %) cases of HbE homozygous, 9(1.92 %) of Beta Thal trait, & 2(0.43 %) of double heterozygous. Conclusion: This study showed a high prevalence of hemoglobinopathies in antenatal mothers necessitating an appropriate screening strategy for antenatal mothers. We also conclude that HPLC is a sensitive technique for studying hemoglobinopathies during pregnancy and maybe utilized for screening.