Agarwal, Sarita ; Pradhan, M. ; Gupta, U. R. ; Yadav, R. S. ; Agarwal, S. S. (2001) Structural hemoglobin variants: mutation, hematology and its application in prenatal diagnosis International Journal of Human Genetics, 1 (2). pp. 97-100. ISSN 0972-3757
Full text not available from this repository.
Official URL: http://www.krepublishers.com/02-Journals/IJHG/IJHG...
Abstract
Referred cases of Genetics OPD, SGPGI between 1988-2000 were screened for cause of anemia. Out of which one hundred and ninety eight individuals were found as abnormal hemoglobin variants and associated with β-thalassemia mutations viz: EβT, SβT, DβT. These phenotypes were of severe type. Hematology and mutation analysis were performed in these subjects by ARMS-PCR technique. Due to high prevalence of IVS I-5 (G-C) mutation, most of the structural variants (69%) were found associated with this mutation. Severity of the thalassemia syndromes (EβT, SβT, DβT) emphasized the need of establishment of prenatal diagnosis for common structural hemoglobin variants along with beta thalassemia mutations.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Kamla-Raj Enterprises. |
| Keywords: | Hemoglobin Variants; Prenatal Diagnosis; Mutation; Polymerase Chain Reaction; Thalassemia; Hematology |
| ID Code: | 76156 |
| Deposited On: | 29 Dec 2011 15:01 |
| Last Modified: | 29 Dec 2011 15:01 |
Repository Staff Only: item control page
