| Full text | |
| Author(s): |
Weinstein, B. I.
;
Erramouspe, B.
;
Albuquerque, D. M.
;
Oliveira, D. M.
;
Kimura, E. M.
;
Costa, F. F.
[6]
;
Sonati, M. F.
Total Authors: 7
|
| Document type: | Journal article |
| Source: | American Journal of Hematology; v. 81, n. 5, p. 358-360, May 2006. |
| Field of knowledge: | Health Sciences - Medicine |
| Abstract | |
We report here a new frameshift mutation in exon 3 of the beta-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG->GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia. It leads to a -chain that is elongated to 156 amino acids [(141)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(156)Tyr-COOH]. The resulting hemoglobin, which we named Hb Florida, was not detected in peripheral blood; however, erythroid hyperplasia and dyserythropoiesis with large inclusion bodies on methyl violet staining were observed in bone marrow, suggesting that this is a hyperunstable variant producing a dominant beta-thalassemia phenotype, since the other -allele was completely normal. (AU) | |
| FAPESP's process: | 02/13801-7 - Hereditary hemoglobin disorders: molecular genetics, clinical features and animal models with the production of transgenic animals |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |