| Full text | |
| Author(s): Show less - |
Bezerra, Marcos A. C.
[1, 2]
;
Albuquerque, Dulcineia M.
[2]
;
Santos, Magnun N. N.
[1, 3]
;
Kimura, Elza M.
[3]
;
Jorge, Susan E. D. C.
[3]
;
Oliveira, Denise M.
[3]
;
Domingues, Betania L. T. B.
[1]
;
Peres, Jaqueline C.
[1]
;
Araujo, Aderson S.
[1]
;
Costa, Fernando F.
[2]
;
Sonati, Maria F.
[3]
Total Authors: 11
|
| Affiliation: | [1] Haematol & Haemotherapy Ctr Pernambuco HEMOPE, Recife, PE - Brazil
[2] Univ Estadual Campinas, State Univ Campinas, Haematol & Haemotherapy Ctr, BR-13083970 Campinas, SP - Brazil
[3] Univ Estadual Campinas, State Univ Campinas, Sch Med Sci, Dept Clin Pathol, BR-13083970 Campinas, SP - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | EUROPEAN JOURNAL OF HAEMATOLOGY; v. 83, n. 4, p. 378-382, OCT 2009. |
| Web of Science Citations: | 1 |
| Abstract | |
We describe here two new unstable beta-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC -> TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal beta-globin chain. (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 |