Coinheritance of Hb Bristol-Alesha [beta 67(E11)Val -> Met; HBB: c.202G > A] and the alpha 212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia

Author(s)

Pedroso, Gisele A. ^[1] ; Kimura, Elza M. ^[1] ; Santos, Magnun N. N. ^[1] ; Albuquerque, Dulcineia M. ^[2] ; Ferruzzi, Jucilane L. H. ^[3] ; Jorge, Susan E. ^[1] ; Costa, Fernando F. ^[2] ; Saad, Sara T. O. ^[2] ; Sonati, Maria F. ^[1]

Affiliation

^[1] State Univ Campinas UNICAMP, Sch Med Sci, Dept Clin Pathol, Hemoglobinopathies Lab, Campinas, SP - Brazil

^[2] State Univ Campinas UNICAMP, Hematol & Hemotherapy Ctr, Campinas, SP - Brazil

^[3] Fed Univ Grande Dourados UFGD, Univ Hosp, Dourados, Mato Grosso Do - Brazil

• Document type: Journal article
• Source: HEMOGLOBIN; v. 41, n. 3, p. 203-208, 2017.
• Web of Science Citations: 1

Abstract

Hb Bristol-Alesha {[}HBB: c.202G>A; 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the -globin gene that leads to the replacement of valine by methionine in the corresponding position of the -globin chain. The methionine residue is subsequently modified to aspartic acid {[}67(E11)Val-MetAsp], possibly by autoxidation mechanisms. This substitution prevents normal non-polar binding of Val67 to the heme group, resulting in molecular instability and severe hemolysis. We identified Hb Bristol-Alesha (in the heterozygous state), as the cause of severe congenital hemolytic anemia in an 11-month-old girl of mixed (native Indian and European) ethnic origin from the Midwestern region of Brazil, whose parents were clinically and hematologically normal. The mutation on the -globin gene was found to have been coinherited with the 212 patchwork allele. (AU)

• FAPESP's process: 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches
• Grantee: Fernando Ferreira Costa
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 15/13710-1 - Structural and functional study of human hemoglobin variants
• Grantee: Susan Elisabeth Domingues Costa Jorge
• Support Opportunities: Scholarships in Brazil - Post-Doctoral