Denaturing high-performance liquid chromatography: An efficient screening approach in the genetic diagnosis of hemoglobin Hammersmith
Journal
Biomedical Engineering - Applications, Basis and Communications
Journal Volume
18
Journal Issue
6
Pages
343-347
Date Issued
2006
Author(s)
Abstract
In this study we here present the first report of the detection of the rare beta-thalassemia mutation in the Taiwanese population: Hemoglobin Hammersmith (Hb Hammersmith). The mutation was detected by denaturing high-performance liquid chromatography (DHPLC) screening followed by automated direct sequencing. The mutation was found in an affected woman and her immature female fetus in the heterozygous state. Molecular abnormality of Hb Hammersmith results from an abnormal beta chain with an amino acid substitution (condon 42, TTT→TCT, Phe→Ser) in the beta-globin (HBB) gene with the clinical presentation of hemolytic anemia. Given known wide spectrum of beta-thalassemia alleles in the Taiwanese population, the present report further confirmed the high heterogeneity rate. This result indicated that the importance of the efficient screening approach by DHPLC for genetic diagnosis in beta-thalassemia.
SDGs
Other Subjects
Amino acids; Diseases; Genetic engineering; Hemoglobin; Patient treatment; Alleles; Beta thalassemia mutation; Denaturing high performance liquid chromatography (DHPLC); Liquid chromatography; hemoglobin; hemoglobin hammersmith; unclassified drug; allele; amino acid substitution; article; beta thalassemia; controlled study; denaturing high performance liquid chromatography; gene mutation; gene sequence; genetic screening; hemolytic anemia; human; Taiwan
Type
journal article