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Although the average frequency of beta-thalassaemia carriers in India is 3-4% and the prevalent mutations have been studied, no micromapping has been done. This is the first attempt to provide an accurate estimate of the frequencies of beta-thalassaemia and the expected annual births of homozygous children in different districts of Maharashtra and Gujarat(More)
There is clinical variability in the presentation of sickle cell disease among Indians. Vaso-occlusive crisis is common among non-tribal patients. Hydroxyurea, induces fetal hemoglobin (HbF) synthesis and reduces the clinical severity of sickle cell disease but individual patients have a variable response. This study was undertaken to investigate the(More)
BACKGROUND The clinical and hematological response to hydroxyurea was evaluated in beta thalassemia patients in western India with variable clinical severity and correlated with genetic factors. MATERIALS AND METHODS Seventy-nine patients-[38-beta thalassemia intermedia-(group I), 41-beta thalassemia major-(group II)] on hydroxyurea therapy were(More)
BACKGROUND Haemoglobin E (HbE)-beta-thalassaemia has a very variable clinical presentation. The management of severe cases that are often transfusion dependent is similar to that of cases of beta-thalassaemia major; however, this is often not possible in India because of its high cost and the lack of availability of safe blood at many places. Thus there was(More)
An accurate diagnosis of beta -thalassemia carriers, homozygous patients and identification of different structural hemoglobin variants is important for epidemiological studies as well as for management and prevention of the major hemoglobin disorders. There are many electrophoretic and chromatographic approaches for estimation of HbA2 and Hb F but cation(More)
BACKGROUND Prenatal diagnosis of hemoglobinopathies enables couples at risk to have a healthy child. Currently used fetal sampling procedures are invasive with some risk of miscarriage. A non-invasive approach to obtain fetal deoxyribonucleic acid (DNA) for diagnosis would eliminate this risk. AIM To develop and evaluate a non-invasive prenatal diagnostic(More)
To determine the frequencies of beta-thalassemia mutations in different states of India and to compare this with the available data in Asian Indians for a comprehensive catalogue of molecular defects in the Indian population. beta-thalassemia mutations were characterized in 2456 heterozygotes using reverse dot blot hybridization, ARMS and DNA sequencing. 36(More)
BACKGROUND Co-inheritance of structural hemoglobin variants like HbS, HbD(Punjab) and HbE can lead to a variable clinical presentation and only few cases have been described so far in the Indian population. METHODS We present the varied clinical and hematological presentation of 22 cases (HbSD(Punjab) disease-15, HbSE disease-4, HbD(Punjab)E disease-3)(More)
A variety of mutations causing beta-thalassemia (beta-thal) have been seen in the Indian subcontinent. We report eight families in whom two novel mutations [codon 16 (C>T), IVS-II-613 (C>T)] and three rare mutations [codons 22/23/24 (-7 bp) (-AAGTTGG), -87 (C>A), codon 15 (-T)] were encountered among 375 beta-thal heterozygotes. They were referred to us for(More)