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Volumn 90, Issue 7, 2011, Pages 769-775

Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: Report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi

Author keywords

CNSHA; Dengue hemorrhagic fever (DHF); G6PD deficiency; G6PD mutations; Neonatal jaundice

Indexed keywords

ARGININE; ASPARAGINE; CYSTEINE; HEMOGLOBIN A1C; LEUCINE; LYSINE; PHENYLALANINE;

EID: 79960204938     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-010-1153-4     Document Type: Article
Times cited : (14)

References (29)
  • 1
    • 0001585429 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle (eds). 8 McGraw-Hill New York
    • Luzzatto L, Mehta A, Vulliamy T (2001) Glucose-6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 4517-4554
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 4517-4554
    • Luzzatto, L.1    Mehta, A.2    Vulliamy, T.3
  • 2
    • 0031213525 scopus 로고    scopus 로고
    • Hematologically important mutations: Glucose-6-phosphate dehydrogenase
    • DOI 10.1006/bcmd.1997.0147
    • T Vulliamy L Luzzatto A Hirono E Beutler 1997 Hematologically important mutations: glucose-6-phosphate dehydrogenase Blood Cell Mol Dis 23 302 313 10.1006/bcmd.1997.0147 1:CAS:528:DyaK2sXnt1eis7k%3D (Pubitemid 27469465)
    • (1997) Blood Cells, Molecules and Diseases , vol.23 , Issue.2 , pp. 302-313
    • Vulliamy, T.1    Luzzatto, L.2    Hirono, A.3    Beutler, E.4
  • 3
    • 0015170235 scopus 로고
    • Human glucose-6-phosphate dehydrogenase variants
    • 5316621 1:CAS:528:DyaE38XntVOjsA%3D%3D
    • A Yoshida E Beutler AG Motulsky 1971 Human glucose-6-phosphate dehydrogenase variants Bull WHO 45 243 253 5316621 1:CAS:528: DyaE38XntVOjsA%3D%3D
    • (1971) Bull WHO , vol.45 , pp. 243-253
    • Yoshida, A.1    Beutler, E.2    Motulsky, A.G.3
  • 4
    • 0014349392 scopus 로고
    • Thai variant and the distribution of alleles of 6 phospho-gluconate dehydrogenase and the distribution of glucose-6-phosphate dehydrogenase deficiency in Thailand
    • 5715190 10.1007/BF01474765 1:STN:280:DyaF1M7jt1Gktw%3D%3D
    • S Tuchinda DL Rucknagel S Na-Nakorn P Wasi 1968 Thai variant and the distribution of alleles of 6 phospho-gluconate dehydrogenase and the distribution of glucose-6-phosphate dehydrogenase deficiency in Thailand Biochem Genet 2 253 264 5715190 10.1007/BF01474765 1:STN:280:DyaF1M7jt1Gktw%3D%3D
    • (1968) Biochem Genet , vol.2 , pp. 253-264
    • Tuchinda, S.1    Rucknagel, D.L.2    Na-Nakorn, S.3    Wasi, P.4
  • 5
    • 0019627835 scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • 7030553 1:STN:280:DyaL38%2FntV2ltQ%3D%3D
    • V Panich 1981 Glucose-6-phosphate dehydrogenase deficiency Clin Haematol 10 800 814 7030553 1:STN:280:DyaL38%2FntV2ltQ%3D%3D
    • (1981) Clin Haematol , vol.10 , pp. 800-814
    • Panich, V.1
  • 6
    • 0029443747 scopus 로고
    • Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1, 000 cord bloods studied in Bangkok
    • 8629122
    • VS Tanphaichitr C Mahasandana V Suvatte S Yodthong P Pung-amritt J Seeloem 1995 Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1, 000 cord bloods studied in Bangkok Southeast Asian J Trop Med Public Health 26 Suppl 1 271 274 8629122
    • (1995) Southeast Asian J Trop Med Public Health , vol.26 , Issue.SUPPL. 1 , pp. 271-274
    • Tanphaichitr, V.S.1    Mahasandana, C.2    Suvatte, V.3    Yodthong, S.4    Pung-Amritt, P.5    Seeloem, J.6
  • 7
    • 0036481467 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population
    • 10.1002/humu.9010 11793482 10.1002/humu.9010 1:STN:280: DC%2BD38%2FmvVegtg%3D%3D
    • I Nuchprayoon S Sanpavat S Nuchprayoon 2002 Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population Hum Mutat 19 185 10.1002/humu.9010 11793482 10.1002/humu.9010 1:STN:280:DC%2BD38%2FmvVegtg%3D%3D
    • (2002) Hum Mutat , vol.19 , pp. 185
    • Nuchprayoon, I.1    Sanpavat, S.2    Nuchprayoon, S.3
  • 8
    • 0014508664 scopus 로고
    • G-6PD Bangkok: A new variant found in congenital nonspherocytic hemolytic disease (CNSHD)
    • 5779160 1:STN:280:DyaF1M7mt1Oisg%3D%3D
    • P Talalak E Beutler 1969 G-6PD Bangkok: a new variant found in congenital nonspherocytic hemolytic disease (CNSHD) Blood 33 772 776 5779160 1:STN:280:DyaF1M7mt1Oisg%3D%3D
    • (1969) Blood , vol.33 , pp. 772-776
    • Talalak, P.1    Beutler, E.2
  • 10
    • 0017347447 scopus 로고
    • International committee for standardization in haematology: Recommended methods for red cell enzyme analysis
    • E Beutler KG Blume JC Kaplan, et al. 1977 International committee for standardization in haematology. recommended methods for red-cell enzyme analysis Br J Haematol 35 331 340 857853 10.1111/j.1365-2141.1977.tb00589.x 1:CAS:528:DyaE2sXhsFWrurw%3D (Pubitemid 8048257)
    • (1977) British Journal of Haematology , vol.35 , Issue.2 , pp. 331-340
    • Beutler, E.1    Blume, K.G.2    Kaplan, J.C.3
  • 11
    • 0028339178 scopus 로고
    • Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis
    • A Hirono S Miwa H Fujii F Ishida K Yamada K Kubota 1994 Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotopic single-strand conformation polymorphism analysis Blood 83 3363 3368 8193373 1:CAS:528:DyaK2MXhsFGmsw%3D%3D (Pubitemid 24158486)
    • (1994) Blood , vol.83 , Issue.11 , pp. 3363-3368
    • Hirono, A.1    Miwa, S.2    Fujii, H.3    Ishida, F.4    Yamada, K.5    Kubota, K.6
  • 12
    • 0028885341 scopus 로고
    • Multiple glucose-6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (Southwestern Pacific)
    • 7825590 1:CAS:528:DyaK2MXktlWrtL8%3D
    • M Ganczakowski M Town DK Bowden, et al. 1995 Multiple glucose-6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (Southwestern Pacific) Am J Hum Genet 56 294 301 7825590 1:CAS:528:DyaK2MXktlWrtL8%3D
    • (1995) Am J Hum Genet , vol.56 , pp. 294-301
    • Ganczakowski, M.1    Town, M.2    Bowden, D.K.3
  • 14
    • 33744981421 scopus 로고    scopus 로고
    • Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand
    • DOI 10.1007/s10038-006-0380-y
    • A Ninokata R Kimura U Samakkarn W Settheetham-Ishida T Ishida 2006 Coexistence of five G6PD variants indicates ethnic complexity of Phuket Islanders, Southern Thailand J Hum Genet 51 5 424 428 16528451 10.1007/s10038-006-0380-y (Pubitemid 43863778)
    • (2006) Journal of Human Genetics , vol.51 , Issue.5 , pp. 424-428
    • Ninokata, A.1    Kimura, R.2    Samakkarn, U.3    Settheetham-Ishida, W.4    Ishida, T.5
  • 15
    • 0025605094 scopus 로고
    • G6PD Canton: A common deficient variant in South East Asia caused by a 459 Arg → Leu mutation
    • 2263506 10.1093/nar/18.23.7190 1:CAS:528:DyaK3MXls1Ogug%3D%3D
    • DJ Stevens W Wanachiwanawin PJ Mason TJ Vulliamy L Luzzatto 1990 G6PD Canton: a common deficient variant in South East Asia caused by a 459 Arg → Leu mutation Nucleic Acids Res 18 7190 2263506 10.1093/nar/18.23.7190 1:CAS:528:DyaK3MXls1Ogug%3D%3D
    • (1990) Nucleic Acids Res , vol.18 , pp. 7190
    • Stevens, D.J.1    Wanachiwanawin, W.2    Mason, P.J.3    Vulliamy, T.J.4    Luzzatto, L.5
  • 16
    • 0030031242 scopus 로고    scopus 로고
    • Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants
    • DOI 10.1002/(SICI)1096-8652(199601)51:1<19::AID-AJH4>3.0.CO;2-A
    • CS Huang KL Hung MJ Huang YC Li TH Liu 1996 Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants Am J Hematol 51 19 25 8571933 10.1002/(SICI)1096-8652(199601)51:1<19: :AID-AJH4>3.0.CO;2-A 1:CAS:528:DyaK28XhsVSjtLY%3D (Pubitemid 26041506)
    • (1996) American Journal of Hematology , vol.51 , Issue.1 , pp. 19-25
    • Huang, C.-S.1    Hung, K.-L.2    Huang, M.-J.3    Li, Y.-C.4    Liu, T.-H.5    Tang, T.K.6
  • 17
    • 0033254047 scopus 로고    scopus 로고
    • Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton
    • 10643148 1:STN:280:DC%2BD3c7gslOlsg%3D%3D
    • A Shibuya A Hirono S Ishii H Fujii S Miwa 1999 Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton Int J Hematol 70 233 235 10643148 1:STN:280:DC%2BD3c7gslOlsg%3D%3D
    • (1999) Int J Hematol , vol.70 , pp. 233-235
    • Shibuya, A.1    Hirono, A.2    Ishii, S.3    Fujii, H.4    Miwa, S.5
  • 18
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse (Mus musculus L.)
    • 13764598 10.1038/190372a0 1:STN:280:DyaF3c%2FosVGksw%3D%3D
    • MF Lyon 1961 Gene action in the X-chromosome of the mouse (Mus musculus L.) Nature 190 372 373 13764598 10.1038/190372a0 1:STN:280: DyaF3c%2FosVGksw%3D%3D
    • (1961) Nature , vol.190 , pp. 372-373
    • Lyon, M.F.1
  • 19
    • 0002826398 scopus 로고
    • The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G-6-PD deficiency as a marker
    • 13868717 10.1073/pnas.48.1.9 1:CAS:528:DyaF38Xns1SksA%3D%3D
    • E Beutler M Yeh VF Fairbanks 1962 The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD deficiency as a marker Proc Natl Acad Sci USA 48 9 16 13868717 10.1073/pnas.48.1.9 1:CAS:528: DyaF38Xns1SksA%3D%3D
    • (1962) Proc Natl Acad Sci USA , vol.48 , pp. 9-16
    • Beutler, E.1    Yeh, M.2    Fairbanks, V.F.3
  • 20
    • 0345011407 scopus 로고
    • X-inactivation in females heterozygous for G-6-PD variants
    • A. Yoshida E. Beutler (eds). Academic New York
    • Beutler E (1986) X-inactivation in females heterozygous for G-6-PD variants. In: Yoshida A, Beutler E (eds) Glucose-6-Phosphate dehydrogenase. Academic, New York, pp 405-415
    • (1986) Glucose-6-Phosphate Dehydrogenase , pp. 405-415
    • Beutler, E.1
  • 23
    • 0347181274 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency in Thailand: Its significance in the newborn
    • 11400792
    • VS Tanphaichitr 1999 Glucose-6-phosphate dehydrogenase deficiency in Thailand: its significance in the newborn Southeast Asian J Trop Med Public Health 30 Suppl 2 75 78 11400792
    • (1999) Southeast Asian J Trop Med Public Health , vol.30 , Issue.SUPPL. 2 , pp. 75-78
    • Tanphaichitr, V.S.1
  • 24
    • 0034428694 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • DOI 10.1053/beha.1999.0055
    • A Mehta PJ Mason TJ Vulliamy 2000 Glucose-6-phosphate dehydrogenase deficiency Baillières Best Pract Res Clin Haematol 13 21 38 10916676 10.1053/beha.1999.0055 1:STN:280:DC%2BD3M%2FjtlyhsA%3D%3D (Pubitemid 32834309)
    • (2000) Best Practice and Research in Clinical Haematology , vol.13 , Issue.1 , pp. 21-38
    • Mehta, A.1    Mason, P.J.2    Vulliamy, T.J.3
  • 25
    • 31744448147 scopus 로고    scopus 로고
    • Dengue hemorrhagic fever in patients with thalassemia
    • B Pongtanakul N Narkbunnam G Veerakul, et al. 2005 Dengue hemorrhagic fever in patients with thalassemia J Med Assoc Thai 88 Suppl 8 580 584
    • (2005) J Med Assoc Thai , vol.88 , Issue.SUPPL. 8 , pp. 580-584
    • Pongtanakul, B.1    Narkbunnam, N.2    Veerakul, G.3
  • 26
    • 0000494375 scopus 로고
    • Incidence of gallbladder disease in chronic hemolytic anemia (spherocytosis)
    • 14926818 1:STN:280:DyaG38%2Fls12hug%3D%3D
    • GC Bates CH Brown 1952 Incidence of gallbladder disease in chronic hemolytic anemia (spherocytosis) Gastroenterology 21 104 109 14926818 1:STN:280:DyaG38%2Fls12hug%3D%3D
    • (1952) Gastroenterology , vol.21 , pp. 104-109
    • Bates, G.C.1    Brown, C.H.2
  • 27
    • 0019302505 scopus 로고
    • Cholelithiasis in sickle cell anemia. Surgical or medical management
    • DOI 10.1001/archinte.140.5.648
    • GC Stephens RB Scott 1980 Cholelithiasis in sickle cell anemia Arch Intern Med 140 648 651 7396590 10.1001/archinte.140.5.648 1:STN:280: DyaL3c3ktFSruw%3D%3D (Pubitemid 10038376)
    • (1980) Archives of Internal Medicine , vol.140 , Issue.5 , pp. 648-651
    • Stephens, C.G.1    Scott, R.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.