| Literature DB >> 17655708 |
Meenal G Agrawal1, Aparna A Bhanushali, Pratiksha Dedhia, Kanchan D Jeswani, Sucheta Dayanand, Amar Dasgupta, Bibhu R Das.
Abstract
The present report describes the hematologic and molecular study of the second case of Hb D(Iran) associated with beta(0)-thalassemia (619 bp-deletion) found in India and the first case in which the mutations have been identified at molecular level. The patient showed hypochromic, microcytic red cell picture with reduced red cell indices. The characterization of the hemoglobinopathy was made by electrophoretic and chromatographic techniques and confirmed by sequencing of the beta-globin gene. Both the propositus and her father were found to be carriers of the gene for beta(0)-thalassemia owing to the 619 bp-deletion mutation as seen by the polymerase chain reaction (PCR). Single base substitution GAA > CAA (indicative of Hb D(Iran)) in the heterozygous form was seen in the propositus as well as the mother by sequencing.Entities:
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Year: 2007 PMID： 17655708 DOI： 10.1111/j.1600-0609.2007.00896.x
Source DB: PubMed Journal: Eur J Haematol ISSN： 0902-4441 Impact factor: 2.997