Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa

Translated title of the contribution: Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase

Adrián P. Mansini, Diego A. Fernández, Fernando M. Aguirre, Carolina Pepe, Berenice Milanesio, Alejandro Chaves, Silvia Eandi Eberle, Aurora Feliú Torres

Research output: Contribution to journalArticle

Abstract

The co-inheritance of erythrocyte defects, hemoglobinopathies, enzymopathies, and membranopathies is not an unusual event. For the diagnosis, a laboratory strategy, including screening and confirmatory tests, additional to molecular characterization, was designed. As the result of this approach, a 24-year-old man carrying a hemoglobinopathy (Hemoglobin Woodville) and an enzymopathy (glucose-6-phosphate dehydrogenase deficiency) was identified. In the heterozygous state hemoglobin Woodville, is asymptomatic, and homozygous or double heterozygous individuals have not been reported thus far. On the other hand, previously described double point mutation in the gene for glucose-6-phosphate dehydrogenase c. [202G>A; 376A>G], p. [Val 68Met; Asn126Asp], causes hemolysis of varying severity after food or drug intake or infections. This case highlights the importance of the methodology carried out for the diagnosis, treatment, and proper genetic counseling.

Translated title of the contributionHemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase
Original languageSpanish
Pages (from-to)404-406
Number of pages3
JournalMedicina (Argentina)
Volume75
Issue number6
StatePublished - Dec 2015

Keywords

  • Abnormal hemoglobins
  • Glucose-6-phosphate dehydrogenase deficiency
  • Woodville hemoglobin

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    Mansini, A. P., Fernández, D. A., Aguirre, F. M., Pepe, C., Milanesio, B., Chaves, A., Eandi Eberle, S., & Feliú Torres, A. (2015). Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa. Medicina (Argentina), 75(6), 404-406.