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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: GENETICS AND MOLECULAR BIOLOGY; v. 32, n. 4, p. 712-715, 2009.
• Citações Web of Science: 3

Resumo

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)

• Processo FAPESP: 02/13801-7 - Alterações hereditárias das hemoglobinas: genética molecular, aspectos da evolução clínica e produção de animais transgênicos
• Beneficiário: Fernando Ferreira Costa
• Modalidade de apoio: Auxílio à Pesquisa - Temático