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

Blood

Volumn 95, Issue 4, 2000, Pages 1499-1501

  Costa, Elísio ^a   Cabeda, José Manuel ^b   Vieira, Emilia ^b   Pinto, Rui ^b   Pereira, Susana Aires ^b   Ferraz, Leonor ^b   Santos, Rosário ^b   Barbot, José ^b  

^a HOSPITAL MARIA PIA   (Portugal)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; CHRONIC DISEASE; GENE MUTATION; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; MALE; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034651547     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v95.4.1499.004k02_1499_1501     Document Type: Article

References (13)

1. Luzzatto L. Glucose-6-phosphate dehydrogenase deficiency and hemolytic anemia. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood. Vol. 1. Philadelphia: WB Saunders; 1998: 704.
2. Vulliamy TJ, Kaeda JS, Ait-Chafa D, et al. Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. Br J Haematol. 1998;101:670-675.
3. Mason PJ, Sonati MF, MacDonald D, et al. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood. 1995;85: 1377-1380.
4. Vulliamy TJ, Luzzatto L, Hirono A, Beutler E. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis. 1997;23:302-313.
5. Naylor CE, Rowland P, Basak AK, et al. Glucose-6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. Blood. 1996;87:2974-2982.
6. Betke K, Brewer GJ, Kirkman HN, et al. Standardization of the procedures for the study of G6PD: report of a WHO scientific group. World Health Organ Tech Rep Ser. 1967:366.
7. Dacie JV, Lewis SM. Practical Haematology. Edinburgh: Churchill Livingstone; 1991.
8. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 1989;5:874-879.
9. Calabro V, Mason PJ, Civitelli D, et al. Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the cosenza district. Am J Hum Genet. 1993;52:527-536.
10. Verkerk AJMH, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65:905-914.
11. Clemens PR, Fenwick RG, Chamberlain JS, et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucloetide repeat polymorphisms. Am J Hum Genet. 1931;49:951-960.
12. Zimmerman SA, Ware RE, Forman L, Westwood B, Beutler E. Glucose-6-phosphate dehydrogenase Durham: a de novo mutation associated with chronic hemolytic anemia. J Pediatr. 1997; 131:284-287.
13. Au SWN, Naylor CE, Gover S, et al. Solution of the structure of tetrameric human glucose-6-phosphate dehydrogenase by molecular replacement. Acta Cryst. 1999;D55:826-834.