NDLI: Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.

Please wait, while we are loading the content...

Kinetic evidence for modulation by glycophorin A of a conformational equilibrium between two states of band 3 (SLC4A1) bound reversibly by the competitive inhibitor DIDS.

Olive tree wood phenolic compounds with human platelet antiaggregant properties.

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.

Improving survival with deferiprone treatment in patients with thalassemia major: a prospective multicenter randomised clinical trial under the auspices of the Italian Society for Thalassemia and Hemoglobinopathies.

Spartathlon, a 246 kilometer foot race: effects of acute inflammation induced by prolonged exercise on circulating progenitor reparative cells.

The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.

Activation of human neutrophil Mac-1 by anion substitution.

Characterization of morphological response of red cells in a sucrose solution.

Splenic marginal zone lymphoma: Clinical clustering of immunoglobulin heavy chain repertoires.

Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.

A second case of secondary acute myeloblastic leukemia associated with the MLL-KIAA0284 fusion gene.

Hereditary stomatocytosis and cation-leaky red cells--recent developments.

Suppression of membrane microvesiculation--a possible anticoagulant and anti-tumor progression effect of heparin.

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.

Red Blood Cell Na pump: Insights from Species Differences

Protein 4.2: a complex linker.

Protein 4.1 and the control of ion channels.

Spatial analysis of erythrocyte membrane fluctuations by digital holographic microscopy.

Chemical Crosslinking Studies with the Mouse Kcc1 K-Cl Cotransporter

Year: 2009 Volume: 42 Issue: 2

Year: 2009 Volume: 42 Issue: 1

Year: 2008 Volume: 41

Year: 2008 Volume: 40

Year: 2007 Volume: 39

Year: 2007 Volume: 38

Year: 2006 Volume: 37

Year: 2005 Volume: 35

Year: 2005 Volume: 34

Year: 2002 Volume: 29

Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Colah, Roshan Gorakshakar, Ajit Nadkarni, Anita Phanasgaonkar, Supriya Surve, Reema Sawant, Pratibha Mohanty, Dipika Ghosh, Kanjaksha
Spatial Coverage	Europe India Middle East Pakistan Asia Mediterranean Region
Description	Country affiliation: India Author Affiliation: Colah R ( National Institute of Immunohaematology (ICMR), 13th Floor, NMS Building, KEM Hospital Campus, Parel, Mumbai - 4000 12, India.)
Abstract	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 beta-thalassemia mutations were characterized from 18 different states in India. Seven mutations were common, accounting for 95.8% of mutated alleles. Marked regional diversity was seen in different parts of the country. Among the tribal populations, only 2 mutations (IVS I-5 (G-->C) and CD15 (G-->A) accounted for over 90% of mutant alleles. A compilation of all the studies in Asian Indians reported so far showed the presence of 63 mutations in the Indian population. This large study adds to the existing data to give a detailed account of the molecular basis of beta-thalassemia in India. This information is important for establishing prenatal diagnosis programmes in different states in India as well as other countries in which there is a major influx of Indian immigrants.
File Format	HTM / HTML
ISSN	10799796
Issue Number	3
Volume Number	42
e-ISSN	10960961
Journal	Blood Cells, Molecules, and Diseases
Language	English
Publisher	Elsevier
Publisher Date	2009-05-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Hematology Ethnic Groups Genetics Mutation Beta-globins Beta-thalassemia Alleles Asia Ethnology Dna Mutational Analysis Europe Genotype Humans India Epidemiology Mediterranean Region Middle East Pakistan Comparative Study Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Cell Biology Hematology Molecular Biology Molecular Medicine

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events.

Beta-thalassemia mutations in western India.

Molecular updating of ß-thalassemia mutations in the Upper Egyptian population.

The spectrum of - and ß-thalassemia mutations of the Li people in Hainan Province of China.

Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.

The spectrum of ß-thalassemia mutations in Gaza Strip, Palestine.

Broader spectrum of ß-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Haplotype analysis of beta thalassemia patients in Western Iran.

Comprehensive and Efficient HBB Mutation Analysis for Detection of β-Hemoglobinopathies in a Pan-Ethnic Population

Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.

Similar Documents

Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events.

Beta-thalassemia mutations in western India.

Molecular updating of ß-thalassemia mutations in the Upper Egyptian population.

The spectrum of - and ß-thalassemia mutations of the Li people in Hainan Province of China.

Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.

The spectrum of ß-thalassemia mutations in Gaza Strip, Palestine.

Broader spectrum of ß-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Haplotype analysis of beta thalassemia patients in Western Iran.

Comprehensive and Efficient HBB Mutation Analysis for Detection of β-Hemoglobinopathies in a Pan-Ethnic Population

Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.