Antenatal screening for identification of couples for prenatal diagnosis of severe hemoglobinopathies in surat, South gujarat.

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 ß-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 ß-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 ß 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.

Prevalence and hematological profile of ß-thalassemia and sickle cell anemia in four communities of Surat city.

BACKGROUND: From the data of transfusion-dependent thalassemia major cases, the 4 communities (Muslim, Dhodia Patel, Kachhiya Patel, and Modh Bania) with high prevalence but not studied methodically were selected. AIM: The aim of this study is to find prevalence of ß-thalassemia and sickle cell anemia in 4 selected communities and also to evaluate hematological profile in them. MATERIALS AND METHODS: For screening of ß-thalassemia trait (BTT) and sickle cell trait (SCT), all samples were tested for red cell indices, solubility, HbA(2) level and doubtful cases confirmed on HPLC. STATISTICAL ANALYSIS: Mean ± SD, χ(2) and 't' tests were used to evaluate the significance. RESULTS AND CONCLUSION: Among 4 selected communities, the highest prevalence of BTT was observed in Modh Bania (6.2%) and Kachhiya Patel (6.05%) and that of SCT in Dhodia Patel (14.0%). Significantly higher prevalence of BTT was observed in Memon (P < 0.0001) and of SCT in Khalifa 6.6% (P < 0.0001) compared to other Muslim sub castes. Anemia was more prevalent in BTT compared to non-BTT and non-SCT subjects. 80% of Dhodia Patel non-BTT and non-SCT subjects showed microcytic red cell morphology. Their Mean ± SD Hb concentration was 12.1 ± 1.73, hence iron deficiency cannot be a sole reason. This community needs α-thalassemia and iron studies.

Hemoglobinopathies in South Gujarat population and incidence of anemia in them.

OBJECTIVE: To Screen of South Gujarat population for determination of prevalence of different hemoglobinopathies particularly beta thalassemia trait (BTT) and sickle cell trait (SCT) and find out the incidence of anemia in them. MATERIAL AND METHODS: The present study screened 32,857 samples of students from different school and colleges in South Gujarat. Blood samples were initially tested for solubility test and complete hemogram on hematology analyzer. Samples having MCV (≤78), MCH (≤28) and/or positive solubility test were investigated for Hb electrophoresis on cellulose acetate membrane (pH 8.6). Hb A2 level ≥3.5% was considered as diagnostic for BTT. High performance liquid chromatography on Biorad Hb variant system was done on samples having doubtful results. RESULT: Overall prevalence of BTT and SCT in South Gujarat was 4.4% and 1.3% respectively. Gamit, Vasava, Chaudhary, and Mahyavanshi castes had high prevalence of BTT (15.9%, 13.6%, 12.6%, and 6.9%) as well as SCT (22.2%, 15.2, 22.3, and 4.2%) respectively. Other communities like Lohana (10.8%), Sindhi (10.2%), Prajapati (6.3%), and Ghanchi (6.2%) also showed higher prevalence of BTT. Incidence of mild to moderate anemia was higher in BTT and SCT compared to non-BTT or non-SCT subjects. CONCLUSION: Study suggests that BTT is the most prevalent hemoglobinopathy in South Gujarat. ß-thalassemia and Sickle cell anemia are highly prevalent in Mahyavanshi, Chaudhary, Gamit, Vasava and Rohit. Prajapati, Lohana, Leva Patel, and Ghanchi have ß- thalassemia risk. SCT is more frequently detected in Dhodia Patel and Kukanas.