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International Journal of Hematology

, Volume 83, Issue 2, pp 139–143 | Cite as

Glucose-6-Phosphate Dehydrogenase Variants Associated with Favism in Thai Children

  • Vichai Laosombat
  • Benjamas Sattayasevana
  • Teerachit Chotsampancharoen
  • Malai Wongchanchailert
Article

Abstract

In a study conducted at Songklanagarind Hospital in the south of Thailand, the subjects were 225 patients (210 boys and 15 girls) with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Favism was found in 3.6% of the G6PD-deficient children. Approximately one half of the G6PD-deficient patients with favism were younger than 2 years. Sudden onset of anemia was found within 1 to 3 days after ingestion of dried fava beans. The classic features of favism, which are pallor, hemoglobinuria, and jaundice, were detected in all cases. To characterize the known G6PD mutations in Thai children, molecular analysis was performed for 8 G6PD-deficient children with favism by a combination of polymerase chain reaction-restriction fragment length polymorphism analysis and amplification refractory mutation system analysis.The G6PD variants in these children were G6PD Kaiping 1388,G->A; G6PD Mahidol 487,G->A; G6PD Viangchan 871,G→A; and uncharacterized mutation with silent mutation 1311,C→T.

Key words

Favism G6PD deficiency G6PD mutation Children Thai 

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References

  1. 1.
    Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bull World Health Organ. 1989;67:601–611.Google Scholar
  2. 2.
    Belsey MA.The epidemiology of favism. Bull World Health Organ. 1973;48:1–13.PubMedPubMedCentralGoogle Scholar
  3. 3.
    Beutler E. G6PD: population genetics and clinical manifestations. Blood Rev. 1996;10:45–52.CrossRefPubMedGoogle Scholar
  4. 4.
    Beutler E. G6PD deficiency. Blood. 1994;84:3613–3636.PubMedGoogle Scholar
  5. 5.
    Lie-Injo LE, Pillay RP, Virik HK. Haemolysis due to glucose-6- phosphate dehydrogenase deficiency in Malaya. Trans R Soc Trop Med Hyg. 1966;60:262–266.CrossRefGoogle Scholar
  6. 6.
    Boon WH. Favism in Singapore. J Singapore Paediatr Soc. 1972;14:17–25.PubMedGoogle Scholar
  7. 7.
    Wood TA, Tooze JA, Dunbar E. Letter: diagnosis of G-6-PD deficiency. Lancet. 1975;2:657.CrossRefPubMedGoogle Scholar
  8. 8.
    Tanphaichitr VS, Pung-amritt P, Yodthong S, Soongswang J, Mahasandana C, Suvatte V. Glucose-6-phosphate dehydrogenase deficiency in the newborn: its prevalence and relation to neonatal jaundice. Southeast Asian J Trop Med Public Health. 1995;26(suppl 1):137–141.PubMedGoogle Scholar
  9. 9.
    Panich V. Glucose-6-phosphate dehydrogenase deficiency, 2: tropical Asia. Clin Haematol. 1981;10:800–814.PubMedGoogle Scholar
  10. 10.
    Kitayaporn D, Charoenlarp P, Pattaraarechachai J, Pholpoti T. G6PD deficiency and fava bean consumption do not produce hemolysis in Thailand. Southeast Asian J Trop Med Public Health. 1991;22:176–182.PubMedGoogle Scholar
  11. 11.
    Beutler E, Vulliamy TJ. Hematologically important mutations: glucose- 6-phosphate dehydrogenase. Blood Cells Mol Dis. 2002;28:93–103.CrossRefPubMedGoogle Scholar
  12. 12.
    Nuchprayoon I, Sanpavat S, Nuchprayoon S. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population. Hum Mutat. 2002;19:185–190.CrossRefPubMedGoogle Scholar
  13. 13.
    Laosombat V, Sattayasevana B, Janejindamai W, et al. Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind). Blood Cells Mol Dis. 2005;34:191–196.CrossRefPubMedGoogle Scholar
  14. 14.
    Standardization of procedures for the study of glucose-6-phosphate dehydrogenase: report of a WHO Scientific Group. World Health Organ Tech Rep Ser. 1967;366:1–53.Google Scholar
  15. 15.
    Huang CS, Hung KL, Huang MJ, Li YC, Liu TH, Tang TK. Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants. Am J Hematol. 1996;51:19–25.CrossRefPubMedGoogle Scholar
  16. 16.
    Maffi D, Pasquino MT, Caprari P, et al. Identification of G6PD Mediterranean mutation by amplification refractory mutation system. Clin Chim Acta. 2002;321:43–47.CrossRefPubMedGoogle Scholar
  17. 17.
    Ren X, Du C, Lin Q. Studies on a G6PD polymorphic site, cDNA C1311T [in Chinese]. Zhonghua Xue Ye Xue Za Zhi. 1999;20:197–199.PubMedGoogle Scholar
  18. 18.
    Kattamis CA, Chaidas A, Chaidas S. G6PD deficiency and favism in the island of Rhodes (Greece). J Med Genet. 1969;6:286–291.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Siniscalco M, Bernini L, Latte B, Motulski AG. Favism and thalassaemia in Sardinia and their relationship to malaria. Nature. 1961;190:1179–1180.CrossRefGoogle Scholar
  20. 20.
    Meloni T, Forteleoni G, Meloni GF. Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience. Acta Haematol. 1992;87:29–31.CrossRefPubMedGoogle Scholar
  21. 21.
    Meloni T, Forteleoni G, Dore A, Cutillo S. Favism and hemolytic anemia in glucose-6-phosphate dehydrogenase-deficient subjects in North Sardinia. Acta Haematol. 1983;70:83–90.CrossRefPubMedGoogle Scholar
  22. 22.
    Kattamis CA, Kyriazokou M, Chaidas S. Favism: clinical and biochemical data. J Med Genet. 1969;6:34–41.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Kattamis CA, Karambula K, Ioannidou V, Hatzikou V. Jaundice and bilirubin levels in Greek children with favism. Arch Dis Child. 1971;51:233–235.CrossRefGoogle Scholar
  24. 24.
    Shibuya A, Hirono A, Ishii S, Fujii H, Miwa S. Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton. Int J Hematol. 1999;70:233–235.PubMedGoogle Scholar
  25. 25.
    Nafa K, Reghis A, Osmani N, et al. G6PD Aures: a new mutation (48 Ile?Thr) causing mild G6PD deficiency is associated with favism. Hum Mol Genet. 1993;2:81–82.CrossRefPubMedGoogle Scholar
  26. 26.
    Ohga S, Higashi E, Nomura A, et al. Haptoglobin therapy for acute favism: a Japanese boy with glucose-6-phosphate dehydrogenase Guadalajara. Br J Haematol. 1995;89:421–423.CrossRefPubMedGoogle Scholar
  27. 27.
    Panich V, Sungnate T. Characterization of glucose-6-phosphate dehydrogenase in Thailand: the occurrence of 6 variants among 50 G-6-PD deficient Thai. Humangenetik. 1973;18:39–46.PubMedGoogle Scholar
  28. 28.
    Panich V, Na-Nakorn S. G-6-PD variants in Thailand. J Med Assoc Thai. 1980;63:537–543.PubMedGoogle Scholar
  29. 29.
    Chiu DT, Zuo L, Chen E, et al. Two commonly occurring nucleotide base substitutions in Chinese G6PD variants. Biochem Biophys Res Commun. 1991;180:988–993.CrossRefPubMedGoogle Scholar
  30. 30.
    Chen BH, Lin SR, Chiang CH, Chao MC. Molecular characterization of Chinese G6PD deficiency by using polymerase chain reaction/ single strand conformation polymorphism. Kaohsiung J Med Sci. 1998;14:197–202.PubMedGoogle Scholar
  31. 31.
    Yang Z, Chu J, Ban G, Huang X, Xu S, Li M. The genotype analysis of glucose-6-phosphate dehydrogenase deficiency in Yunnan province [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001;18:259–263.PubMedGoogle Scholar
  32. 32.
    Yang Z, Chu J, Xu S, Lin K, Tao Y, Shi L. The preliminary study on the gene mutations of sixty patients with G6PD deficiency in Yunnan province [in Chinese]. Zhonghua Xue Ye Xue Za Zhi. 2000;21:509–511.PubMedGoogle Scholar
  33. 33.
    Liu J, Ren X, Chen Q, et al. Comparative study of three common G6PD gene mutations in Yao and Han People in Guangxi [in Chinese]. Zhonghua Xue Ye Xue Za Zhi. 2000;21:190–191.PubMedGoogle Scholar
  34. 34.
    Du CS, Ren X, Chen L, Jiang W, He Y, Yang M. Detection of the most common G6PD gene mutations in Chinese using amplification refractory mutation system. Hum Hered. 1999;49:133–138.CrossRefPubMedGoogle Scholar
  35. 35.
    Chang JG, Chiou SS, Perng LI, et al. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Blood. 1992;80:1079–1082.PubMedGoogle Scholar
  36. 36.
    Ainoon O, Joyce J, Boo NY, Cheong SK, Zainal ZA, Hamidah NH. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese. Hum Mutat. 1999;14:352–359.CrossRefPubMedGoogle Scholar
  37. 37.
    Saha S, Saha N, Tay JS, Jeyaseelan K, Basair JB, Chew SE. Molecular characterisation of red cell glucose-6-phosphate dehydrogenase deficiency in Singapore Chinese. Am J Hematol. 1994;47:273–277.CrossRefPubMedGoogle Scholar
  38. 38.
    Panich V, Sungnate T, Wasi P, Na-Nakorn S. G-6-PD Mahidol: the most common glucose-6-phosphate dehydrogenase variant in Thailand. J Med Assoc Thai. 1972;55:576–585.PubMedGoogle Scholar
  39. 39.
    Beutler E, Westwood B, Kuhl W, Hsia YE. Glucose-6-phosphate dehydrogenase variants in Hawaii. Hum Hered. 1992;42:327–329.CrossRefPubMedGoogle Scholar
  40. 40.
    Iwai K, Hirono A, Matsuoka H, et al. Distribution of glucose-6- phosphate dehydrogenase mutations in Southeast Asia. Hum Genet. 2001;108:445–449.CrossRefPubMedGoogle Scholar
  41. 41.
    Ainoon O, Yu YH, Amir Muhriz AL, Boo NY, Cheong SK, Hamidah NH. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. Hum Mutat. 2003;21:101–109.CrossRefPubMedGoogle Scholar
  42. 42.
    Yusoff NM, Shirakawa T, Nishiyama K, et al. Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia. Int J Hematol. 2002;76:149–152.CrossRefPubMedGoogle Scholar
  43. 43.
    Beutler E, Westwood B, Kuhl W. Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD “LeJeune.” Acta Haematol. 1991;86:179–182.CrossRefPubMedGoogle Scholar
  44. 44.
    Beutler E, Kuhl W. The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet. 1990;47:1008–1012.PubMedPubMedCentralGoogle Scholar
  45. 45.
    Kurdi-Haidar B, Mason PJ, Berrebi A, et al. Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. Am J Hum Genet. 1990;47:1013–1019.PubMedPubMedCentralGoogle Scholar
  46. 46.
    Mehta A, Mason PJ, Vulliamy TJ. Glucose-6-phosphate dehydrogenase deficiency. Baillieres Best Pract Res Clin Haematol. 2000;13:21–38.CrossRefPubMedGoogle Scholar
  47. 47.
    Vives Corrons JL, Pujades A. Heterogeneity of “Mediterranean Type” glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism. Hum Genet. 1982;60:216–221.CrossRefGoogle Scholar
  48. 48.
    Kahn A, Marie J, Desbois JC, Boivin P. Favism in a Portuguese family due to a deficient glucose-phosphate dehydrogenase variant (Canton) or (cpanton-like) type. Acta Haematol. 1976;56:58–64.CrossRefPubMedGoogle Scholar
  49. 49.
    Niazi GA, Adeyokunnu A, Westwood B, Beutler E. G6PD Aures: a rare mutant of G6PD in Saudi Arabia—molecular and clinical presentations. Saudi Med J. 1996;17:311–314.Google Scholar
  50. 50.
    Jablonska-Skwiecinska E, Lewandowska I, Plochocka D, et al. Several mutations including two novel mutations of the glucose-6- phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism. Hum Mutat. 1999;14:477–484.CrossRefPubMedGoogle Scholar
  51. 51.
    van Wijk R, Huizinga EG, Prins I, et al. Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis. 2004;32:112–117.CrossRefPubMedGoogle Scholar
  52. 52.
    Galiano S, Gaetani GF, Barabino A, et al. Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-). BMJ. 1990;300:236..CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© The Japanese Society of Hematology 2006

Authors and Affiliations

  • Vichai Laosombat
    • 1
  • Benjamas Sattayasevana
    • 1
  • Teerachit Chotsampancharoen
    • 1
  • Malai Wongchanchailert
    • 1
  1. 1.Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of MedicinePrince of Songkla UniversityHat YaiThailand

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