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Unstable hemoglobin Rush [beta 101(G3) Glu>Gln, HBB:c.304G>C] in a Brazilian family with moderate hemolytic anemia

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Abstract

Hemoglobin Rush is an unstable variant generated by a mutation of the β-globin gene which causes amino acid replacement Glu>Gln in the central cavity of hemoglobin (G3). Many members of a Brazilian family of Italian descent have hemoglobin Rush. This is the second report in world literature. Clinical and laboratory features were retrieved and gene mutation was characterized. Hemoglobin electrophoresis, gene sequencing, and restriction fragment length polymorphism with Hpy188I were used to characterize it. In 13 affected members, hemoglobin ranged from 9.3 to 13.0 g/dL and reticulocyte count up to 12.8%. The intensity of hemolysis appeared to be linked to increased stress. The mutation was proved to be HBB:c.304G>C, beta 101(G3) Glu>Gln. Heterozygous hemoglobin Rush should be suspected when alkaline electrophoresis shows three bands, whereas isoelectric focusing and acid electrophoresis show only two. Adequate genetic counseling to avoid intermarriage should be provided because homozygous hemoglobin Rush is predicted to be clinically severe.

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Acknowledgments

The authors would like to thank all family members for agreeing to participate in the study and Beatriz Carvalho, Fundação Hemominas, for her technical assistance. This work was supported by Fapemig (Fundação de Amparo à Pesquisa do Estado de Minas Gerais) and Nupad (Núcleo de Ações e Pesquisa em Apoio Diagnóstico, UFMG). Marcos Borato Viana has a research grant from CNPq (Brazilian Research Council), Brazil.

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Authors and Affiliations

  1. Faculdade de Medicina (UFMG), Universidade Federal de Minas Gerais, Minas Gerais, Brazil

    Marcilene Rezende Silva & Marcos Borato Viana

  2. Instituto de Ciências Biológicas (UFMG), Universidade Federal de Minas Gerais, Minas Gerais, Brazil

    Shimene Mascarenhas Sendin

  3. Fundação Hemominas, Minas Gerais, Brazil

    Cibele Velloso-Rodrigues, André Rolim Belisário, Terezinha Santos D’Ávila & Liege Ribeiro Lyra

  4. Departamento de Pediatria e Núcleo de Ações e Pesquisa em Apoio Diagnóstico (Nupad), UFMG, Av. Alfredo Balena, 190; sala 267, Belo Horizonte, 30130-100, Brazil

    Marcos Borato Viana

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  1. Marcilene Rezende Silva
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  2. Shimene Mascarenhas Sendin
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  3. Cibele Velloso-Rodrigues
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  4. André Rolim Belisário
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  5. Terezinha Santos D’Ávila
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  6. Liege Ribeiro Lyra
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  7. Marcos Borato Viana
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Correspondence to Marcos Borato Viana.

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Silva, M.R., Sendin, S.M., Velloso-Rodrigues, C. et al. Unstable hemoglobin Rush [beta 101(G3) Glu>Gln, HBB:c.304G>C] in a Brazilian family with moderate hemolytic anemia. Ann Hematol 91, 1091–1096 (2012). https://doi.org/10.1007/s00277-011-1403-0

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  • DOI: https://doi.org/10.1007/s00277-011-1403-0

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