Dipal S Bhukhanvala1, Smita M Sorathiya1, Pratibha Sawant2, Roshan Colah2, Kanjaksha Ghosh2, Snehalata C Gupte1. 1. Department of Research, Surat Raktadan Kendra & Research Centre (NABH Accredited Regional Blood Transfusion Centre), 1st Floor, Khatodara Health Centre, Besides Chosath Joganiyo Mata's Temple, Udhana Magdalla Road, Khatodara, Surat, 394 210 India. 2. Department of Hemato Genetics, National Institute of Immunohaematology (ICMR), 13th Floor, New Multistoried, Building, KEM, Hospital Campus, Parel, Mumbai, India.
Abstract
PURPOSE: Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat. METHOD: Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and confirmation by HPLC. Husbands of the pregnant women having hemoglobinopathies were counseled and screened for hemoglobinopathies. The couples at risk were again counseled and referred to the National Institute of Immunohematology, where mutations in parents and fetuses were identified by molecular analysis. After prenatal diagnosis, the continuing pregnancies were followed up and infants were tested at birth. RESULTS: Out of 3,009 women, 37.04, 52.6, and 10.3 % were in the first, second, and third trimester of pregnancy, respectively. Among those having hemoglobinopathies, 102 (3.38 %) had the β-thalassemia trait, 46 (1.5 %) the Sickle cell trait, and 26 (0.86) had hemoglobin variants like Hb DPunjab, Hb E, Hb DIran, Hb QIndia, Hb JParis-I, and Hb OIndonesia. Out of the 14 couples at risk of having an affected child, 11 (78.5 %) couples opted for prenatal diagnosis. Three fetuses had homozygous β-thalassemia and hence the pregnancies were terminated. Follow up of normal or heterozygous fetuses confirmed the diagnosis. CONCLUSION: During antenatal screening, we found many Hb variants of β and α globin chains. Late antenatal registration, non-cooperation of the husband for investigation, and refusal for prenatal diagnosis are the main hurdles in the hemoglobinopathy prevention program and awareness is necessary.
PURPOSE: Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat. METHOD: Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and confirmation by HPLC. Husbands of the pregnant women having hemoglobinopathies were counseled and screened for hemoglobinopathies. The couples at risk were again counseled and referred to the National Institute of Immunohematology, where mutations in parents and fetuses were identified by molecular analysis. After prenatal diagnosis, the continuing pregnancies were followed up and infants were tested at birth. RESULTS: Out of 3,009 women, 37.04, 52.6, and 10.3 % were in the first, second, and third trimester of pregnancy, respectively. Among those having hemoglobinopathies, 102 (3.38 %) had the β-thalassemia trait, 46 (1.5 %) the Sickle cell trait, and 26 (0.86) had hemoglobin variants like Hb DPunjab, Hb E, Hb DIran, Hb QIndia, Hb JParis-I, and Hb OIndonesia. Out of the 14 couples at risk of having an affected child, 11 (78.5 %) couples opted for prenatal diagnosis. Three fetuses had homozygous β-thalassemia and hence the pregnancies were terminated. Follow up of normal or heterozygous fetuses confirmed the diagnosis. CONCLUSION: During antenatal screening, we found many Hb variants of β and α globin chains. Late antenatal registration, non-cooperation of the husband for investigation, and refusal for prenatal diagnosis are the main hurdles in the hemoglobinopathy prevention program and awareness is necessary.