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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil

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Author(s):
André Fattori [1] ; Elza Miyuki Kimura [2] ; Dulcinéia Martins de Albuquerque [3] ; Satie Hatsushika Ogo [4] ; Graziela Renata Stoppa [5] ; Juliana Touquinha Martins [6] ; Carmen Silvia Passos Lima [7] ; Sara Terezinha Ollala Saad [8] ; Fernando Ferreira Costa [9] ; Maria de Fátima Sonati [10]
Total Authors: 10
Affiliation:
[1] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia
[2] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[3] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia
[4] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[5] Universidade Estadual de Campinas. Instituto de Biologia. Departamento de Bioquímica - Brasil
[6] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia
[7] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia
[8] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia
[9] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia
[10] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
Total Affiliations: 10
Document type: Journal article
Source: GENETICS AND MOLECULAR BIOLOGY; v. 29, n. 2, p. 200-202, 2006-00-00.
Abstract

We report the clinical and laboratory findings concerning three unrelated Brazilian patients investigated for polycythemia, whose definitive diagnosis could only be established after the presence of Hb Coimbra (b99 Asp ® Glu) was demonstrated. This illustrates the importance of properly investigating hereditary hemoglobinopathies in cases of erythrocytosis because in some populations variants with high oxygen affinity may be more frequent than expected but go undetected when conventional electrophoresis is used as the sole detection procedure. (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