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

Hb H disease resulting from the association of an alpha(0)-thalassemia allele [-(alpha)(20.5)] with an unstable alpha-globin variant [Hb Icaria]: First report on the occurrence in Brazil

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Author(s):
Kimura, Elza M. [1] ; Oliveira, Denise M. [1] ; Fertrin, Kleber [2, 3] ; Pinheiro, Valeria R. [2] ; Jorge, Susan E. D. C. [1] ; Costa, Fernando F. [3] ; Sonati, Maria de Fatima [1]
Total Authors: 7
Affiliation:
[1] Univ Estadual Campinas, Fac Ciencias Med, Dept Patol Clin, Campinas, SP - Brazil
[2] Ctr Infantil Dr Domingos A Boldrini, Campinas, SP - Brazil
[3] Univ Estadual Campinas, Ctr Hematol & Hemoterapia, Campinas, SP - Brazil
Total Affiliations: 3
Document type: Journal article
Source: GENETICS AND MOLECULAR BIOLOGY; v. 32, n. 4, p. 712-715, 2009.
Web of Science Citations: 3
Abstract

Hb H Disease is caused by the loss or inactivation of three of the four functional alpha-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (alpha-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common alpha(0) deletion {[}-(alpha)(20.5)] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable alpha-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0%, respectively). This is the first description of this infrequent association in the Brazilian population. (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