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

Abstract：

: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).

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Vulliamy TJ,Kaeda JS,Ait-Chafa D,Mangerini R,Roper D,Barbot J,Mehta AB,Athanassiou-Metaxa M,Luzzatto L,Mason PJ

doi

10.1046/j.1365-2141.1998.00763.x

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

670-5

issue

4

eissn

0007-1048

issn

1365-2141

journal_volume

101

pub_type

杂志文章

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