Identification of a case of glucose-6-phosphate dehydrogenase deficiency with G6PD mediterranean-middle east subtype in China

International Journal of Laboratory Hematology

Volumn 35, Issue 5, 2013, Pages

  Liu, W L ^a   Li, Fang ^a   He, Z X ^a   Jiang, H Y ^a   Ai, R ^a  

^a GUIZHOU MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HEMOGLOBIN; LACTATE DEHYDROGENASE; METHEMOGLOBIN;

AMINO ACID SUBSTITUTION; ANEMIA; BLOOD SAMPLING; BLOOD TRANSFUSION; CASE REPORT; CHILD; CHINA; CLEFT LIP; CLEFT PALATE; ENZYME ACTIVITY; GENETIC VARIABILITY; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYTIC ANEMIA; HUMAN; JAUNDICE; LETTER; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; URINALYSIS; URINE COLOR; VICIA FABA;

CHILD, PRESCHOOL; CHINA; CODON; EXONS; GENOTYPE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; MALE; MUTATION;

EID: 84884973663     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/ijlh.12046     Document Type: Letter

References (10)

1. Beutler E. G6PD deficiency. Blood 1994;84:3613-36.
2. Vives-Corrons JL, Kuhl W, Pujades MA, Beutler E. Molecular Genetics of the Glucose-6-Phosphate Dehydrogenase(G6PD) Mediterranean Variant and Description of a New G6PD Mutant, G6PD Andalus136A. Am J Hum Genet 1990;47:575-9.
3. Beutler E, Kuhl W. The NT 1311 Polymorphism of G6PD: G6PD Mediterranean Mutation May Have Originated Independently in Europe and Asia Nine Different Glucose-6-phosphate Dehydrogenase (G6PD). Am J Hum Genet 1990;47:1008-12.
4. Wang J, Luo E, Hirai M, Arai M, Abdul-Manan E, Mohamed-Isa Z, Hidayah N, Matsuoka H. Nine different glucose-6-phosphate dehydrogenase (G6PD) variants in a Malaysian population with Malay, Chinese, Indian and Orang Asli (aboriginal Malaysian) backgrounds. Acta Med Okayama 2008;62:327-32.
5. McDade J, Abramova T, Mortier N, Howard T, Ware RE. A Novel G6PD Mutation Leading to Chronic Hemolytic Anemia. Pediatr Blood Cancer 2008;51:816-9.
6. Brewer GJ, Tarlov AR, Alving AS. Methemoglobin reduction test - a new, simple in vitro test for identifying primaquine sensitivity. Bull World Health Organ 1960;22:633-40.
7. Du CS. Detection of Glucose-6-phosphate dehydrogenase deficiency in erythrocytes using method for measurement of G6PD/6PGD ratio. Birth Health Hered 1991;4:1-3.
8. Luzzatto L, Battistuzzi G. Glucose-6-phosphate dehydrogenase. Adv Hum Genet 1985;14:217-329.
9. Roos D, van Zwieten R, Wijnen JT, Gómez-Gallego F, de Boer M, Stevens D, Pronk-Admiraal CJ, de Rijk T, van Noorden CJ, Weening RS, Vulliamy TJ, Ploem JE, Mason PJ, Bautista JM, Khan PM, Beutler E. Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood 1999;94:2955-62.
10. Jiang W, Yu G, Liu P, Geng Q, Chen L, Lin Q, Ren X, Ye W, He Y, Guo Y, Duan S, Wen J, Li H, Qi Y, Jiang C, Zheng Y, Liu C, Si E, Zhang Q, Tian Q, Du C. Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population. Hum Genet 2006;119:463-78.