| Abstract | We report two French Caucasian families suffering from dominant thalassemia-like phenotypes due to hyper unstable hemoglobin (Hb) variants. In both cases, molecular analysis revealed a defect localized in the third exon of the beta-globin gene, resulting in dramatic changes of the Hb structure. The first one is a new variant, Hb Sainte Seve, that is associated with a frameshift mutation at codon 118 (-T). In the second family, the disease resulted from a truncated protein due to a stop mutation at codon 127 [CAG-->TAG (Gln-->Stop)]. These two observations are additional evidences of the important role played by helix H in Hb stability: its partial absence, or a large structural modification, seems to be the major reason for the hyper instability of such molecules. |
| Authors | Claude Préhu, Serge Pissard, Maha Al-Sheikh, Catherine Le Niger, Dora Bachir, Fréderic Galactéros, Henri Wajcman
(Affiliation: INSERM U654, Hôpital Henri Mondor, Créteil, France.)
|
| Journal | Hemoglobin
(Hemoglobin)
Vol. 29
Issue 3
Pg. 229-33
( 2005)
ISSN: 0363-0269 United States |
| PMID | 16114188
(Publication Type: Journal Article)
|
| Chemical References |
- Codon, Nonsense
- Hemoglobins, Abnormal
- hemoglobin Sainte Seve
|
| Topics |
- Adult
- Codon, Nonsense
(genetics)
- European Continental Ancestry Group
- Family
- Female
- Frameshift Mutation
- France
- Hemoglobins, Abnormal
(genetics)
- Humans
- Male
- Middle Aged
- Point Mutation
- Protein Structure, Secondary
(genetics)
- Thalassemia
(genetics)
|
