ReviewThe Indian journal of medical research2011
Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India.
Review in The Indian journal of medical research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.The Indian journal of medical research · 2025Pooled it
- Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India.Indian journal of pediatrics · 2026Article
- Spectrum of Hemoglobinopathies in Microcytic Hypochromic Anemia: A Cross-Sectional Study From Western India.Cureus · 2026Article
- Article
- Article
- Review
- Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.Journal of personalized medicine · 2022Article
- Significance of borderline HbAScientific reports · 2022Article
- Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2020Article
- Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.Frontiers in immunology · 2020Review
- Sickle Cell Disease and Pregnancy.Mediterranean journal of hematology and infectious diseases · 2019Review
- Quality of Life (QoL) and the Factors Affecting it in Transfusion-dependent Thalassemic Children.Indian journal of pediatrics · 2018Observational
- Prenatal Diagnosis of HbE-β-Thalassemia: Experience of a Center in Western India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2018Article
- Generic Direct Acting Antivirals in Treatment of Chronic Hepatitis C Infection in Patients of Thalassemia Major.Journal of clinical and experimental hepatology · 2017Article
- Clinico-Haematological Profile of Hereditary Haemolytic Anaemias in a Tertiary Health Care Hospital in South India.Journal of clinical and diagnostic research : JCDR · 2017Article
- Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.The application of clinical genetics · 2017Article
- Prenatal diagnosis of sickle cell disease by the technique of PCR.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2015Article
- Sickle cell disease in tribal populations in India.The Indian journal of medical research · 2015Article
- Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.Journal of clinical immunology · 2014Article
- Are Indian parents of children with Down syndrome engaged in the blame game?Indian journal of pediatrics · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis is done. There is considerable molecular heterogeneity with 64 mutations identified, of which 6 to 7 common mutations account for 80-90 per cent of mutant alleles. First trimester foetal diagnosis is done by chorionic villus sampling (CVS) and DNA analysis using reverse dot blot hybridization, amplification refractory mutation system (ARMS) and DNA sequencing. Second trimester diagnosis is done by cordocentesis and foetal blood analysis on HPLC at a few centres. Our experience on prenatal diagnosis of haemoglobinopathies in 2221 pregnancies has shown that >90 per cent of couples were referred for prenatal diagnosis of β-thalassaemia after having one or more affected children while about 35 per cent of couples were referred for prenatal diagnosis of sickle cell disorders prospectively. There is a clear need for more data from India on non-invasive approaches for prenatal diagnosis.
Indexed as
Identifiers
22089620PMC3237256W2172041848What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.