| Full text | |
| Author(s): |
Elza M. Kimura
[1]
;
Denise M. Oliveira
[2]
;
Kleber Fertrin
;
Valéria R. Pinheiro
[4]
;
Susan E.D.C. Jorge
[5]
;
Fernando F. Costa
[6]
;
Maria de Fátima Sonati
[7]
Total Authors: 7
|
| Affiliation: | [1] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[2] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[4] Centro Infantil Dr. Domingos A. Boldrini - Brasil
[5] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[6] Universidade Estadual de Campinas. Centro de Hematologia e Hemoterapia - Brasil
[7] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
Total Affiliations: 7
|
| Document type: | Journal article |
| Source: | GENETICS AND MOLECULAR BIOLOGY; v. 32, n. 4, p. 712-715, 2009-09-04. |
| Abstract | |
Hb H Disease is caused by the loss or inactivation of three of the four functional a-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 (α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common αº deletion [-(α)20.5] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable α-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 |