[Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase].

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.

• Authors: Adrián P Mansini, Diego A Fernández, Fernando M Aguirre, Carolina Pepe, Berenice Milanesio, Alejandro Chaves, Silvia Eandi Eberle, Aurora Feliú Torres
• Journal: Medicina (Medicina (B Aires)) Vol. 75 Issue 6 Pg. 404-6 ( 2015) ISSN: 0025-7680 [Print] Argentina
• Vernacular Title: Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa.
• PMID: 26707665 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Woodville
• Glucosephosphate Dehydrogenase

Topics

• Child, Preschool
• Genetic Counseling
• Glucosephosphate Dehydrogenase (genetics)
• Glucosephosphate Dehydrogenase Deficiency (complications, genetics)
• Hemoglobinopathies (complications, genetics)
• Hemoglobins, Abnormal (genetics)
• Hemolysis
• Heterozygote
• Humans
• Male
• Point Mutation
• Young Adult