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ID 32857
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Author
Wang, Jichun
Matsuoka, Hiroyuki
Hirai, Makoto
Mu, Ling
Yang, Liandi
Luo, Enjie
Abstract

In Liaoning Province in northeastern China, we found a G6PD-deficient patient at the age of 3. By the classification of the World Health Organization, this patient was categorized as class I (very severe G6PD deficiency). When we investigated the G6PD gene of the patient, we found that he had a replacement of G to A at nucleotide 1339. As a result, the amino acid at position 447 should change from Gly to Arg. This replacement is known as G6PD Santiago de Cuba, because it was first discovered in a Cuban boy who showed heavy chronic anemia. Today, 28 G6PD variants have been reported in the Chinese population, and all are categorized as class II (severe deficiency) or class III (mild deficiency);in class II or III deficiency, anemia is not present in daily life, but hemolytic attack can occur when the carrier ingests certain oxidative medicines or foods. This is the first report of a G6PD-deficient Chinese patient in the category of class I. We intended to find other G6PD-deficient cases in northeastern China and tested several hundred blood samples, but no cases of G6PD deficiency were found (0/414). In central China, where falciparum malaria was endemic from the 1950s to 1970s, we found two G6PD-deficient cases (2/27) and the other members from their families whose variant type was G6PD Kaiping (1388GT), which is a common variant in the Chinese population.

Keywords
hemolytic anemia
Chinese
glucose-6-phosphate dehydrogenase
G6PD Santiago de Cuba
malaria
Amo Type
Original Article
Published Date
2010-02
Publication Title
Acta Medica Okayama
Volume
volume64
Issue
issue1
Publisher
Okayama University Medical School
Start Page
49
End Page
54
ISSN
0386-300X
NCID
AA00508441
Content Type
Journal Article
language
英語
File Version
publisher
Refereed
True
PubMed ID
Web of Sience KeyUT