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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.)

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

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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]
Total Authors: 9
[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
Total Affiliations: 3
Document type: Journal article
Source: HEMOGLOBIN; v. 41, n. 3, p. 203-208, 2017.
Web of Science Citations: 1

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