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A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype
| Content Provider | Scilit |
|---|---|
| Author | Castro, Cm De Devlin, B. Fleenor, De Lee, Me Kaufman, Re |
| Copyright Year | 1994 |
| Description | Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. The mutation producing this thalassemic hemoglobinopathy is located near to the beta Showa-Yakushiji mutation (beta 110 Leu-->Pro). Both of these hemoglobinopathies share similar phenotypic features with moderately severe microcytic anemia. Using computer imaging of the hemoglobin molecule, we examined several reported point mutations within exon 3 of the beta-globin gene. These point mutations cause a single amino acid substitution in the G helix, and result in a thalassemic and/or hemolytic phenotype. Computer imaging of nine separate examples suggests that amino acid substitutions affecting side chains that project into the heme pocket may destabilize the heme moiety within the beta-globin chain, resulting in a thalassemic phenotype. Hemolytic phenotypes may be the result of decreased alpha 1 beta 1 interactions. The beta Durham-NC mutation further characterizes a novel group of thalassemias/hemoglobinopathies that are clinically difficult to identify and require accessory laboratory testing. |
| Related Links | https://ashpublications.org/blood/article-pdf/83/4/1109/613231/1109.pdf |
| Ending Page | 1116 |
| Page Count | 8 |
| Starting Page | 1109 |
| DOI | 10.1182/blood.v83.4.1109.1109 |
| Journal | Blood |
| Issue Number | 4 |
| Volume Number | 83 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1994-02-15 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Substitution Mutation Phenotype Thalassemic Beta Globin Durham Nc Journal: Blood (Vol- 77, Issue- 4) |
| Content Type | Text |
| Resource Type | Article |
