Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

• Type: Article in International Scientific Journal
• Date: 2000

Authors

Costa, E (Author) FFUP; Cabeda, JM (Author) Other; Vieira, E (Author) Other; Pinto, R (Author) Other; Pereira, SA (Author) Other; Ferraz, L (Author) Other; Santos, R (Author) Other; Barbot, J (Author) Other

Journal

Title: Blood

Vol. 95

ISSN: 0006-4971

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 16 Citations

Scopus - 17 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-001-0T8

Abstract (EN): Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is Variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I Variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (C) 2000 by The American Society of Hematology.

Language: English

Type (Professor's evaluation): Scientific