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702 Part VI: The Erythrocyte Chapter 47: Erythrocyte Enzyme Disorders 703

TABLE 47–4. Major Polymorphic G6PD Variants
Nucleotide Amino Acid
Variant Substitution Substitution WHO Class † Distribution Reference
Gaohe c.95A>G p.(His32Arg) III Chinese 673
Honiara c.99A>G p.(Ile33Met) I Solomon Islands 674
c.1360C>T p.(Arg454Cys)
Orissa c.131C>G p.(Ala44Gly) III India, Italy 675, 676
Aures c.143T>C p.(Ile48Thr) III Algeria, Tunisia 677, 678
Metaponto c.172G>A p.(Asp58Asn) III Italy 679
A– c.202G>A p.(Val68Met) III Africa 277
c.376A>G p.(Asn126Asp)
Namoru c.208T>C p.(Tyr70His) II Vanuatu Archipelago 680
Ube-Konan c.241C>T p.(Arg81Cys) III Japan, Italy 676, 681
A+ c.376A>G p.(Asn126Asp) III-IV Africa, 272
Mediterranean
Vanua Lava c.383T>C p.(Leu128Pro) II Southwestern Pacific 680
Quing Yan c.392G>T p.(Gly131Val) III China 682
Mahidol c.487G>A p.(Gly163Ser) III Southeast Asia 683
Santamaria c.542A>T p.(Asp181Val) II Costa Rica, Italy 684, 685
c.376A>G p.(Asn126Asp)
Mediterranean, Dallas, c.563C>T p.(Ser188Phe) II Mediterranean 277, 686
Panama, Sassari
Coimbra c.592C>T p.(Arg198Cys) II India, Portugal 687
A– c.680G>T p.(Arg227Leu) III Africa 274
c.376A>G p.(Asn126Asp)
Seattle, Lodi, Modena, p.(Asp282His) III United States, Italy 688–690
Ferrara II, Athens-like
Montalbano c.854G>A p.(Arg285His) III Italy 691
Viangchan, Jammu c.871G>A p.(Val291Met) II China 692, 693
Kalyan, Kerala, Jamnaga, c.949G>A p.(Glu317Lys) III India 694, 695
Rohini
A–, Betica, Selma, c.968T>C p.(Leu323Pro) III Africa, Spain 274
Guantanamo c.376A>G p.(Asn126Asp)
Chatham c.1003G>A p.(Ala335Thr) II Italy, Asia, Africa 277
Chinese-5 c.1024C>T p.(Leu342Phe) III China 682
Ierapetra c.1057C>T p.(Pro353Ser) II Greece 696
Cassano c.1347G>C p.(Gln449His) II Italy, Greece 697, 698
Union, Maewo, Chinese-2, c.1360C>T p.(Arg454Cys) II Italy, Spain, China, 697, 699, 700
Kalo Japan
Canton, Taiwan-Hakka, c.1376G>T p.(Arg459Leu) II Japan, Italy 701, 702
Gifu-like, Agrigento-like
Cosenza c.1376G>C p.(Arg459Pro) II Italy 697
Kaiping, Anant, Dhon, c.1388G>A p.(Arg463His) II China 700, 702
Sapporo-like, Wosera

Class 1, severely deficient, associated with nonspherocytic hemolytic anemia; class 2, severe deficiency (1 to 10 percent residual activity), asso-
†
ciated with acute hemolytic anemia; class 3, moderate deficiency (10 to 60 percent residual activity); class 4, not deficient (60 to 150 percent
activity); class 5, increased activity (>150 percent).
Adapted from PJ Mason, JM Bautista, F Gilsanz and A Minucci, K Moradkhani, MJ Hwang, et al. 160
158
Data from Mason, P. J., Bautista, J. M., and Gilsanz, F. G6PD deficiency: The genotype-phenotype association. Blood reviews. 21: 267–283, 2007
and Minucci, A., Moradkhani, K., Hwang, M. J., et al. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and
update of the new mutations. Blood cells, molecules & diseases 48: 154–165, 2012.

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