Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Autores/as

  • Sonia Maria Lissa Universidade Federal do Paraná. Hospital das Clínicas
  • Sergio Luiz Bach Universidade Federal do Paraná. Hospital das Clínicas
  • Juliana Spezia Universidade Federal do Paraná. Departamento de Análises Clínicas
  • Railson Henneberg Universidade Federal do Paraná. Departamento de Análises Clínicas
  • Paulo Henrique da Silva Universidade Federal do Paraná. Departamento de Análises Clínicas

DOI:

https://doi.org/10.11606/issn.2176-7262.v50i3p177-181

Palabras clave:

Anemia, Sickle Cell. Hemoglobin S. Electrophoresis.

Resumen

This case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite. The father and mother of the child had a heterozygous pattern (Hb AS) in hemoglobin electrophoresis at alkaline pH. The sickling phenomenon has been confirmed to the father, but it has not been confirmed for the mother. The electrophoresis at acid pH was used to differentiate Hb S from Hb D. The family’s phenotype was established: the father has Hb AS, the mother AD and, the child SD. The purpose of this study was to emphasize the importance of confirmation of Hb S detected in electrophoresis at alkaline pH, with the solubility test or 2% sodium metabisulfite and with the electrophoresis at acid pH.

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Biografía del autor/a

  • Sonia Maria Lissa, Universidade Federal do Paraná. Hospital das Clínicas
    Especialista, Bioquímica. Unidade de Apoio Diagnóstico do Hospital das Clínicas da Universidade Federal do Paraná
  • Sergio Luiz Bach, Universidade Federal do Paraná. Hospital das Clínicas
    Doutor, Bioquímico. Unidade de Apoio Diagnóstico do Hospital das Clínicas da UFPR
  • Juliana Spezia, Universidade Federal do Paraná. Departamento de Análises Clínicas
    Mestre, Professora substituta. Departamento de Análises Clínicas da UFPR
  • Railson Henneberg, Universidade Federal do Paraná. Departamento de Análises Clínicas
    Doutor, Professor adjunto - Departamento de Análises Clí- nicas da UFPR
  • Paulo Henrique da Silva, Universidade Federal do Paraná. Departamento de Análises Clínicas
    Doutor, Professor sênior. Departamento de Análises Clínicas da UFPR

Publicado

2017-06-08

Número

Sección

Relato de Caso

Cómo citar

1.
Lissa SM, Bach SL, Spezia J, Henneberg R, Silva PH da. Hemoglobinopathy SD presenting as Hemoglobinopathy SS. Medicina (Ribeirão Preto) [Internet]. 2017 Jun. 8 [cited 2024 May 12];50(3):177-81. Available from: https://revistas.usp.br/rmrp/article/view/139813