Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase

by

Ernest Beutler 1 , Tom Vulliamy 2 , Lucio Luzzatto 3

1 Reprint requests to: Ernest Beutler, M.D., The Scripps Research Institute, Department of Molecular and Experimental Medicine, 106667 North Torrey Pines Road, La Jola, California 92037 USA, phone (619) 554-8040, fax (619) 554-6927, e-mail: beutler@scripps.edu;

2 Department of Haematology, Royal Postgraduate Medical School, Du Cane Road, London UK, phone 44 181 743 2030, fax 44 181 742 9335, e-mail: t.vulliamy@rpms.ac.uk;

3 Department of Human Genetics, Schwartz Building, Room 917, 1275 York Avenue, New York, New York USA, phone (212) 639-6165, fax (212) 717-3374, e-mail: l-luzzatto@ski.mskcc.org.


Editor's note: The pace at which mutations are being found has become so rapid that the publication of up-to-date tabulations has become impossible using conventional means. For example, the last comprehensive publication of glucose-6-phosphate dehydrogenase variants (reference 2 in the present paper) was submitted for publication on June 1994 and published in December of 1994. Since its publication 30 additional variants have been discovered and many that were unpublished in the earlier tabulation have now appeared in print Since papers are published in this journal within less than two weeks of receipt, reprints are available in 2 weeks, and the printed version is on library shelves within an average of 3 months, it provides an ideal medium for publication in such a rapidly moving field.

Updated registries of some mutations are beginning to appear on the internet, and eventually this may be the common means for providing access to mutations. In the meanwhile, the publication of up-to-date, authoritative lists of mutations in Blood Cells, Molecules and Diseases can fill the need. The commentaries that we encourage and publish provide an opportunity for these tabulations to be updated and, where needed, corrected by the readers These corrections will also appear on the internet and in the journal and become a part of the permanent record documenting the mutations covered. We encourage colleagues who are maintaining mutation databases to submit them to us for rapid publication. In this way we hope to provide those interested in the genetics of hematologic disease with a readily available and very up-to-date source of information concerning what mutations have been found and where more information can be obtained about them.


A total of 97 mutations or combination of mutations of the X-linked gene for glucose-6-phosphate dehydrogenase are now known to us Previous tabulations, providing somewhat more detailed information about these mutations (1,2) and comprehensive reviews of the deficiency (2,3) may be found in the cited sources and in OMIM on the World Wide Web (http://www3.LlS.ncbi.nlm.nih.gov/htbin-post/Omim/Dispmim?305900).

The cDNA numbers shown in the table are based on the Genbank sequence with the accession number X03674 and the genomic numbers on the sequence with accession number X55448. In each case the A of the ATG start codon is numbered +1. Note that this numbering is different from that used in the GenBank files. It is necessary to subtract 470 from the GenBank cDNA sequence and 3350 from the GenBank genomic sequence to standardize these sequences to begin at the start codon.


Table: G6PD variants that have been characterized at the DNA level

Variant Name* cDNA Nucleotide Substitution Genomic Nucleotide Substitution Amino Acid Substitution References
Gaohe
Gaozhou
95 A-->G 95G 32 His-->Arg (4)
"Honiara" 99 A-->G
1360 C-->T
99G
13763T
33 lle-->Met (5)
"Sunderland" 105-107 del 105-107 del 105-107 del (6)
"Orissa" 131 C-->G 9988G 44 Ala-->Gly (7)
"Aures" 143 T-->C 10000C 48 Ile-->Thr (8)
"Kozukata" 159 G-->C 1011lC 53 Trp-->Cys (9)
"Kamogawa" 169 C-->T 10121T 57 Arg-->Trp (9)
Metaponto 172 G-->A 10124A 58 Asp-->Asn (10)
A--
Distrito Federal
"Matera"
Castilla
Alabama
Betica
Tepic
Ferrara
Laghout
Kabyle
202 G-->A
376 A-->G
10154A
10877G
68 Val-->Met
126 Asn-->Asp
(11)
(12)
(10)
(12)
(13)
(14)
(12)
(15)
(16)
(16)
Namoru 208 T-->C 10160C 70 Tyr-->His (17)
Murcia 209 A-->G 10161G 70 Tyr-->Cys (18)
Swansea 224 T-->C 10176C 75 Leu-->Pro (19)
Ube
Konan
241 C-->T 10193T 81 Arg-->Cys (20)
"Lagosanto" 242 G-->A 10194A 81 Arg-->His (21)
Urayasu 281-283 AGA del 10782-10784 94 Lys del (22)
"Vancouver " 317 C-->G
544 C-->T
592 C-->T
10818G 106 Ser-->Cys
182 Arg-->Trp
198 Arg-->Cys
(23)
Sao Borja 337 G-->A 10838A 113 Asp-->Asn (24)
A 376 A-->G 10877G 126 Asn Asp (25)
Vanua Lava 383 T-->C 10884C 128 Leu-->Pro (17)
"Chinese-4" 392 G-->T 10893T 131 Gly-->Val (26)
"Cairo" 404 A-->C 10905C 135 Asn-->Thr (27)
"Ilesha" 466 G-->A 10967A 156 Glu-->Lys (10)
Mahidol 487 G-->A 11658A 163 Gly-->Ser (28)
Plymouth 488 G-->A 11659A 163 Gly-->Asp (19)
"Chinese-3" 493 A-->G 11664G 165 Asn-->Asp (29)
Naone 497 G-->A 11668A 166 Arg-->His (17)
"Volendam" 514 C-->T 11684T 172 Pro-->Ser (30)
"Nankang" 517 T-->C 11687C 173 Phe-->Leu (31)
"Shinshu" 527 A-->G 11698G 176 Asp-->Gly (32)
Chikugo 535 A-->T 11706T 179 Ser-->Cys (33)
Malaga 542 A-->T 11713T 181 Asp-->Val (34)
Santamaria 542 A-->T
376 A-->G
11713T
10877G
181 Asp-->Val
126 Asn-->Asp
(35)
Tsukui 561-563 del 11732-11734 del 188 or 189 Ser-->del (22)
Mediterranean
Dallas
Birmingham
"Sassari"
"Cagliari"
Panama
563 C-->T 11734T 188 Ser-->Phe (10)
(36)
(36)
(37)
(37)
(13)
"Coimbra"
"Shunde"
592 C-->T 11763T 198 Arg-->Cys (38)
(39)
"Santiago" 593 G-->C 11764C 198 Arg-->Pro (40)
"Sibari" 634 A-->G 11805G 212 Met-->Val (41)
Minnesota
Marion
Gastonia
"LeJeune"
637 G-->T 11808T 213 Val-->Leu (42)
(42)
(42)
(43)
Harilaou 648 T-->G 11996G 216 Phe-->Leu (44)
"Mexico City" 680 G-->A 12028A 227 Arg-->Gln (40)
A-- 680 G-->T
376 A-->G
12028A
10877G
227 Arg-->Leu
126 Asn-->Asp
(11)
"Asahikawa" 695 G-->A 12043A 232 Cys-->Tyr (33)
Durham 713 A-->G 12061G 238 Lys-->Arg (45)
"Stonybrook" 724-729 GGCACT del 12072-12077 242-243 Gly&Thr del (46)
Wayne 769 G C 12117C 257 Arg-->Gly (43)
"Cleveland"
Corum
820 G-->A 12533A 274 Glu-->Lys (46)
(19)
Wexham 833 C-->T 12546T 278 Ser-->Phe (19)
"Chinese-1" 835 A-->T 12548T 279 Thr-->Ser (47)
Seattle
Lodi
"Modena"
Ferrara II
Athens-like
844 G-->C 12557C 282 Asp-->His (37)
(48)
(49)
(50)
(51)
Osaka 853 C-->T 12566T 285 Arg-->Cys (9)
"Montalbano" 854 G-->A 12567A 285 Arg-->His (52)
Viangchan
Jarnmu
871 G-->A 13031A 291 Val-->Met (43)
"West Virginia" 910 G-->T 13070T 303 Val-->Phe (46)
Seoul 916 G-->A 13076A 306 Gly-->Ser (33)
Kalyan
Kerala
949 G-->A 13109A 317 Glu-->Lys (53)
A--
Betica
Selma
Guantanamo
968 T-->C
376A-->G
13128C
10877G
323 Leu-->Pro
126 Asn-->Asp
(11)
(14)
(14)
(54)
"Nara" 953-976 del 13113-13136 del 319-326 del (55)
Chatham 1003 G-->A 13163A 335 Ala-->Thr (10)
"Fushan" 1004C-->A 1 13164A 335 Ala-->Asp (46)
"Chinese-5" 1024 C-->T 13184T 342 Leu-->Phe (26)
Partenope 1052G-->T 13351T 351 Gly-->Val (56)
"Ierapetra" 1057 C-->T 13356T 353 Pro-->Ser (40)
Loma Linda 1089 C-->A 13388A 363 Asn-->Lys (42)
Calvo Mackenna 1138 A-->G 13437G 380 Ile-->Val (57)
Riley 1139 T-->C 13438C 380 Ile-->Thr (57)
"Olomouc" 1141 T-->C 13440C 381 Phe-->Leu (46)
Tomah 1153 T-->C 13452C 385 Cys-->Arg (10)
Iowa
Walter Reed
Iowa City
Springfield
1156 A-->G 13455G 386 Lys-->Glu (58)
Guadalajara 1159 C-->T 13458T 387 Arg-->Cys (40)
"Mt. Sinai" 1159 C-->T
376 A-->G
13458T
10877G
387 Arg-->Cys
126 Asn-->Asp
(59)
Beverly Hills
Genova
Worcester
1160 G-->A 13459A 387 Arg-->His (58)
(60)
(13)
"Praba" 1166 A-->G 13465G 389 Glu-->Gly (46)
Wisconsin 1177 C-->G 13476G 393 Arg-->Gly (57)
Nashville
Anaheim
"Calgary"
"Portici"
1178 G-->A 13447A 393 Arg-->His (42)
(42)
(13)
(61)
Alhambra 1180 G-->C 13479C 394 Val-->Leu (40)
"Bari" 1187 C-->T 13486T 396 Pro-->Leu (62)
"Puerto Limon" 1192 G-->A 13491A 398 Glu-->Lys (35)
"Anadia" 1193 A-->G 13492G 398 Glu-->Gly (63)
Clinic 1215 G-->A 13514A 405 Met-->Ile (64)
Riverside 1228 G-->T 13527T 410 Gly-->Cys (58)
"Japan"
"Shinagawa"
1229 G-->A 13529A 410 Gly-->Asp (40)
(32)
Tokyo 1246 G-->A 13545A 416 Glu-->Lys (19,65)
"Georgia" 1284 C-->A 13560A 428 Tyr-->End (46)
''Vansdorf" 3' intron 10 splice site del 13689-13690 del N/A (46)
Pawnee 1316 G-->C 13719C 439 Arg-->Pro (40)
Telti
Kobe
1318 C-->T 13721T 440 Leu-->Phe (19)
(66)
"Santiago de Cuba" 1339 G-->A 13742A 447 Gly-->Arg (10)
"S. Antioco" 1342 A-->G 13745G 448 Ser-->Gly (56)
"Cassano" 1347 G-->C 13750C 449 Gln-->His (41)
Union
Maewo
1360 C T 13763T 454 Arg-->Cys (47,67)
(41,64)
Andalus 1361 G-->A 13764A 454 Arg-->His (68)
"Cosenza" 1376 G-->C 13884C 459 Arg-->Pro (41)
Canton
Taiwan-Hakka
Gifu-like
Agrigento-like
1376 G-->T 13884T 459 Arg-->Leu (69)
(70)
(69)
(69)
Kamiube 1387 C-->T 13895T 463 Arg-->Cys (33
Kaiping
Anant
Dhon
Petrich
Sapporo
1388 G-->A 13896A 463 Arg-->His (70)
"Fukaya" 1462 G-->A 14067A 488 Gly-->Ser (33)
"Campinas" 1463 G-->T 14068T 488 Gly-->Val (71)

* According to established convention the names of variants that have not been fully characterized by standardized techniques (72,73) are enclosed in quotes.


References

1. Vulliamy T, Beutler E, Luzzatto L: Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene. Hum Mutat 2:159-167, 1993.

2. Beutler E: G6PD deficiency. Blood 84:3613-3636, 1994.

3. Luzzatto L, Mehta A: Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease . New York: McGraw-Hill, Inc. P. 3367, 1995.

4. Chao L, Du C-S, Louie E, et al. A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese. Nucleic Acids Res 19 :6056, 1991.

5. Hirono A, Ishii A, Kere N, Fujii H, Hirono K, Miwa S: Molecular analysis of glucose-6-phosphate dehydrogenase variants in the Solomon Islands. Am J Hum Genet 56: 1243-1245, 1995.

6. MacDonald D, Town M, Mason P, Vulliamy T, Luzzatto L, Goff DK: Deficiency in red blood cells. Nature 350:115, 1991.

7. Kaeda JS, Chhotray GP, Ranjit MR, et al. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. Am J Hum Genet 57:1335-1341, 1995.

8. Nafa K, Reghis A, Osmani N, et al. G6PD Aures: A new mutation (48 lle-->Thr) causing mild G6PD deficiency is associated with favism. Hum Mol Genet 2:81-82, 1993.

9. Hirono A: Personal communication 1995.

10. Vulliamy TJ, D'Urso M, Battistuzzi G, et al. Diverse point mutations in the human glucose 6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia . Proc Natl Acad Sci USA 85:5171-5175, 1988.

11. Hirono A, Beutler E: Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc Natl Acad Sci USA 85:3951-3954, 1988.

12. Beutler E, Kuhl W, Ramirez E, Lisker R: Some Mexican glucose-6-phosphate dehydrogenase (G-6-PD) variants revisited. Hum Genet 86:371-374, 1991.

13. Beutler E, Kuhl W: Unpublished 1991.

14. Beutler E, Kuhl W, Vives-Corrons J-L, Prchal JT: Molecular heterogeneity of G6PD A-. Blood 74:2550-2555, 1989.

15. Cappellini MD, Sampietro M, Toniolo D, et al. G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype. Hum Genet 93: 139-142, 1994.

16. Nafa K, Reghis A, Osmani N, et al. At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum Genet 94:513-517, 1994.

17. Ganczakowski M, Town M, Bowden DK, et al. Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific). Am J Hum Genet 56:294-301, 1995.

18. Rovira A, Vulliamy T, Pujades MA, Luzzatto L, Corrons JLV: Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: Identification of two new point mutations in the G6PD gene. Br J Haemato l91:66-71, 1995.

19. Mason PJ. Sonati MF, MacDonald D, et al. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 85:1377-1380, 1995.

20. Hirono A, Fujii H, Miwa S: Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan. Hum Genet 91:507-508, 1993.

21. Ninfali P, Baronciani L, Ruzzo A, et al. Molecular analysis of G6PD variants in northern Italy: A study on the population from the Ferrara district. Hum Genet 92:139-142, 1993.

22. Hirono A, Fujii H, Miwa S: Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia. Blood 85:1118-1121, 1995.

23. Maeda M, Constantoulakis P, Chen C-S, Stamatoyannopoulos G, Yoshida A: Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material. Am J Hum Genet 51:386-395, 1992.

24. Weimer TA, Salzano FM, Westwood B, Beutler E: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) variants from Brazil. Hum Biol 65:41-47, 1993.

25. Takizawa T, Yoneyama Y, Miwa S, Yoshida A: A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+). Genomics 1 :228-231, 1987.

26. Chiu DTY, Zuo L, Chao L, et al. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene. Blood 81:2150-2154, 1993.

27. Kaeda J, Roper D, Mason PJ, Luzzatto L: Unpublished 1996.

28. Vulliamy TJ, Wanachiwanawin W, Mason PJ, Luzzatto L: G6PD Mahidol, a common deficient variant in South East Asia is caused by a (163)glycine-serine mutation. Nucleic Acids Res 17:5868, 1989.

29. Tang TK, Huang C-S, Huang M-J, Tam K-B, Yeh C-H, Tang C-JC: Diverse point mutations result in glucose 6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan. Blood 79:2135-2140, 1992.

30. Khan PM, Ploem JE, Wijnen JT, Breukel C, Korthof G, Weening RS: G6PD Volendam: De Novo mutation of unusual mechanism in a severely deficient Dutch female born to apparently normal parents. 7th International Congress of Human Genetics 418a, 1986.

3 l . Tang TK, Chen H-L, Huang C-S, Liu T-H: Identification of a novel G6PD mutation (G6PD NanKang) and the association of F8C/G6PD haplotypes in Chinese. Blood 86 (Suppl 1):134a, 1995.

32. Hirono A, Miwa S, Fujii H, Ishida F, Yamada K, Kubota K: Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradio isotopic single-strand conformation polymorphism analysis. Blood 83:3363-3368, 1994.

33. Hirono A: Personal communication 1994.

34. Vulliamy TJ, Rovira A, Yusoff N, et al. Independent origin of single and double mutations in the human glucose-6-phosphate dehydrogenase gene. Hum Mutat In press 1996.

35. Beutler E, Kuhl W, Sáenz GF, Rodriguez W: Mutation analysis of G6PD variants in Costa Rica. Hum Genet 87:462-464, 1991.

36. 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 47:1008-1012, 1990.

37. De Vita G, Alcalay M, Sampietro M, Cappellini MD, Fiorelli G, Toniolo D: Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet 44:233-240, 1989.

38. Corcoran CM, Calabrò V, Tamagnini G, et al. Molecular heterogeneity underlying the G6PD Mediterranean phenotype. Hum Genet 88:688-690, 1992.

39. Du CS, Chao LT, Louie E, Liu TZ, Chiu DTY: Molecular characterization of G6PD deficiency in patients of Chinese descent and identification of a new base substitution in the human G6PD gene. Blood 80 (Suppl 1):284a, 1992.

40. Beutler E, Westwood B, Prchal J, Vaca G, Bartsocas CS, Baronciani L: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80:255-256, 1992.

41. Calabrò V, Mason PJ, Filosa S, et al. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 52:527-536, 1993.

42. Beutler E, Kuhl W, Gelbart T, Forman L: DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. J Biol Chem 266:4145-4150 1991.

43. Beutler E, Prchal JT, Westwood B, Kuhl W: Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu and G6PD "LeJeune". Acta Haematol (Basel) 86:179-182, 1991.

44. Poggi V, Town M, Foulkes NS, Luzzatto L: Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA. Biochem J 271: 157-160, 1990.

45. Ware R, Zimmerman S, Westwood B, Beutler E: Unpublished 1996.

46. Xu W, Westwood B, Bartsocas CS, Malcorra-Azpiazu JJ, Indrák K, Beutler E: Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood 85:257-263, 1995.

47. Beutler E, Westwood B, Kuhl W, Hsia YE: Glucose-6-phosphate dehydrogenase variants in Hawaii. Hum Hered 42:327-329, 1992.

48. Ninfali P, Bresolin N, Baronciani L, et al. Glucose-6 phosphate dehydrogenase Lodi 844C : A study on its expression in blood cells and muscle. Enzyme 45:180-187, 1991.

49. Fiorelli G, Anghinelli L, Carandina G, et al. Point mutations in two G6PD variants previously described in Italy. Blood 76(Suppl):7a, 1990.

50. Cappellini MD, Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G: Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara Il variant. Hum Genet 95 :440-442, 1995.

51. Frigerio R, Sole G, Lovicu M, Passiu G: Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from Southern Sardinia. Haematologica 79:319-321, 1994.

52. Viglietto G, Montanaro V, Calabrò V, et al. Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: Biochemical and molecular characterization. Ann Hum Genet 54:1-15, 1990.

53. Ahluwalia A, Corcoran CM, Vulliamy TJ, et al. G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation. Hum Mol Genet 1:209-210, 1992.

54. Mason PJ, Estrada M, Corcoran C, Vulliamy TJ, Luzzatto L: Unpublished 1996.

55. Hirono A, Fujii H, Shima M, Miwa S: G6PD Nara: A new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion. Blood 82:3250-3252, 1993.

56. Cappellini MD, Di Montemuros FM, Dotti C, et al. Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) Mediterranean type in Italy. Blood 84:114a, 1994.

57. Beutler E, Westwood B, Melemed A, Dal Borgo P, Margolis D: Three new exon 10 glucose-6-phosphate dehydrogenase mutations. Blood Cells Mol Dis 21 :64-72, 1995.

58. Hirono A, Kuhl W, Gelbart T, Forman L, Fairbanks VF, Beutler E: Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants. Proc Natl Acad Sci USA 86:10015-10017, 1989.

59. Vlachos A, Westwood B, Beutler E: G6PD Mt. Sinai. New hemolytic variant. In preparation 1996.

60. Argusti A, Ahluwalia A, Mason P: Personal communication 1990.

61. Filosa S, Calabrò V, Vallone D, et al. Molecular basis of chronic non-spherocytic haemolytic anaemia: A new G6PD variant (393 Arg-->His) with abnormal K m GPD and marked instability. Br J Haematol 80:111-116, 1992.

62. Filosa S, Cai W, Galanello R, et al. A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. Hum Genet 94:560-562, 1994.

63. Yussoff N, Tamagnini G, Goncalves P, Vulliamy TJ: Unpublished 1996.

64. Vives Corrons JL, Rovira A, Pujades MA, Estrada M, Vulliamy TJ: Diverse point mutations of glucose-6-phosphate dehydrogenase (G6PD) gene in Spanish and Cuban patients with hemolytic anaemia. La Revista de Investigacion Clinica 46(Suppl):234a l994.

65. Hirono A, Fujii H, Hirono K, Kanno H, Miwa S: Molecular abnormality of a Japanese glucose-6 phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. Hum Genet 88:347-348, 1992.

66. Hirono A, Nakayama S, Fujii H, Miwa S: Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate. Am J Hematol 45:185-186, 1994.

67. Hsia YE, Miyakawa F, Baltazar J, et al. Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii. Hum Genet 92:470-476, 1993.

68. Vives-Corrons J-L, Kuhl W, Pujades MA, Beutler E: Molecular genetics of G6PD Mediterranean variant and description of a new G6PD mutant, G6PD Andalus 1361A . Am J Hum Genet 47:575-579, 1990.

69. Stevens DJ, Wanachiwanawin W, Mason PJ, Vulliamy TJ, Luzzatto L: G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg-->Leu mutation. Nucleic Acids Res 18:7190, 1990.

70. Chiu DTY, Zuo L, Chen E, et al. Two commonly occurring nucleotide base substitutions in Chinese G6PD variants. Biochem Biophys Res Commun 180:988-993, 1991.

71. Baronciani L, Tricta F, Beutler E: G6PD "Campinas:" A deficient enzyme with a mutation at the far 3' end of the gene. Hum Mutat 2:77-78, 1993.

72. Betke K, Beutler E, Brewer GJ, et al. Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO scientific group. WHO Tech Rep Ser No. 366: 1967.

73. WHO Working Group: Glucose-6-phosphate dehydrogenase deficiency. Bull WHO 67:601-611, 1989.