caa a22 4500 46325578X CHVBK 20180405153354.0 cr unu---uuuuu 170326e20070701xx s 000 0 eng 10.1007/s00277-006-0224-z doi (NATIONALLICENCE)springer-10.1007/s00277-006-0224-z Status of HFE mutation in thalassemia syndromes in north India [Elektronische Daten] [Sarita Agarwal, D. Tewari, V. Arya, N. Moorchung, R. Tripathi, G. Chaudhuri, M. Pradhan] Hereditary hemochromatosis is an autosomal recessive and most commonly inherited single gene disorder among Caucasians, with a prevalence of 5 per 1,000 and a carrier frequency of 1 in 10. Two point mutations were described and are referred as C282Y and H63D. In the present study, we have analyzed 729 north Indian samples for C282Y and H63D mutations. Of these, no allele of the C282Y mutation was seen, while 3 homozygous and 43 heterozygous for the H63D mutation were seen in the patients of thalassemia group. However, 47 cases were found heterozygous for the H63D mutation among the normal groups (11.16%). Springer-Verlag, 2007 Hereditary hemochromatosis nationallicence HFE mutation nationallicence Thalassemia syndrome nationallicence Indian population nationallicence Agarwal Sarita Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Tewari D. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Arya V. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Moorchung N. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Tripathi R. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Chaudhuri G. Department of Gastro-Medicine, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Pradhan M. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut Annals of Hematology Springer-Verlag 86/7(2007-07-01), 483-485 0939-5555 86:7<483 2007 86 277 https://doi.org/10.1007/s00277-006-0224-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-006-0224-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Agarwal Sarita Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 700 1- Tewari D. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 700 1- Arya V. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 700 1- Moorchung N. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 700 1- Tripathi R. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 700 1- Chaudhuri G. Department of Gastro-Medicine, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 700 1- Pradhan M. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, 226014, Lucknow, India aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/7(2007-07-01), 483-485 0939-5555 86:7<483 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer