Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia

We have determined the causative mutation in 12 cases of glucose‐6‐phosphate dehydrogenase deficiency associated with chronic non‐spherocytic haemolytic anaemia. In 11 of them the mutation we found had been previously reported in unrelated individuals. These mutations comprise seven different missen...

Full description

Saved in:

Bibliographic Details
Published in:	British journal of haematology Vol. 101; no. 4; pp. 670 - 675
Main Authors:	Vulliamy, Tom J., Kaeda, Jaspal S., Ait‐Chafa, Dahlila, Mangerini, Rosa, Roper, David, Barbot, Jose, Mehta, Athul B., Athanassiou‐Metaxa, Luzzatto, Lucio, Mason, Philip J.
Format:	Journal Article
Language:	English
Published:	Oxford, U.K. and Cambridge, USA Blackwell Publishers 01-06-1998 Blackwell Blackwell Publishing Ltd
Subjects:	Adolescent Anemia, Hemolytic - complications Anemia, Hemolytic - genetics Anemias. Hemoglobinopathies Biological and medical sciences Child Child, Preschool Chronic Disease Diseases of red blood cells G6PD deficiency G6PD Serres Gene Deletion Glucosephosphate Dehydrogenase - genetics Glycogen Storage Disease Type I - complications Glycogen Storage Disease Type I - genetics Hematologic and hematopoietic diseases Hematology Humans Infant, Newborn Male Medical sciences Middle Aged Mutation Point Mutation recurrent mutation Human Glucose-6-phosphate 1-dehydrogenase Enzyme Deficiency Metabolic diseases Hemopathy Recurrent Enzymopathy Genetic disease Hemolytic anemia Gene Severity score Oxidoreductases Mutation
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	We have determined the causative mutation in 12 cases of glucose‐6‐phosphate dehydrogenase deficiency associated with chronic non‐spherocytic haemolytic anaemia. In 11 of them the mutation we found had been previously reported in unrelated individuals. These mutations comprise seven different missense mutations and a 24 base pair deletion, G6PD Nara, previously found in a Japanese boy. Repeated findings of the same mutations suggests that a limited number of amino acid changes can produce the CNSHA phenotype and be compatible with normal development. The one new mutation we have found, G6PD Serres, is 1082 C → T causing a 361 Ala → Val substitution in the dimer interface where most other severe G6PD mutations are found. Now that several patients with the same mutation have been reported we can compare the resulting clinical phenotypes. For each mutation we find a reasonably consistent clinical picture, ranging from mild (G6PD Clinic) through moderate (G6PD Nashville) to severe (G6PD Beverly Hills and G6PD Nara).
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0007-1048 1365-2141
DOI:	10.1046/j.1365-2141.1998.00763.x