| Full text | |
| 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 |