title: [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.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
authors.forename: Adrián P
authors.initials: AP
authors.lastname: Mansini
authors.forename: Diego A
authors.initials: DA
authors.lastname: Fernández
authors.forename: Fernando M
authors.initials: FM
authors.lastname: Aguirre
authors.forename: Carolina
authors.initials: C
authors.lastname: Pepe
authors.forename: Berenice
authors.initials: B
authors.lastname: Milanesio
authors.forename: Alejandro
authors.initials: A
authors.lastname: Chaves
authors.forename: Silvia
authors.initials: S
authors.lastname: Eandi Eberle
authors.forename: Aurora
authors.initials: A
authors.lastname: Feliú Torres
mesh_terms: D002675:Child, Preschool; D005817:Genetic Counseling; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006461:Hemolysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D055815:Young Adult
chemical_list: D006455:Hemoglobins, Abnormal; C048298:hemoglobin Woodville; D005954:Glucosephosphate Dehydrogenase
keywords: Woodville hemoglobin; abnormal hemoglobins; glucose-6-phosphate dehydrogenase deficiency