Format

Send to:

Choose Destination

Links from PubMed

Anemia, nonspherocytic hemolytic, due to G6PD deficiency

MedGen UID:
403555
Concept ID:
C2720289
Disease or Syndrome
Synonyms: Glucose-6-phosphate dehydrogenase deficiency; Hemolytic anemia due to G6PD deficiency
 
Gene (location): G6PD (Xq28)
OMIM®: 300908

Definition

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans (see 134700). Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most G6PD-deficient patients are asymptomatic throughout their life. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). [from OMIM]

Clinical features

Prolonged neonatal jaundice
MedGen UID:
505938
Concept ID:
CN005732
Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Prolonged neonatal jaundice
MedGen UID:
505938
Concept ID:
CN005732
Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA.
Fava bean-induced hemolytic anemia
MedGen UID:
428485
Concept ID:
CN004260
Finding
A kind of hemolytic anemia that is induced by the ingestion of fava beans.
Unconjugated hyperbilirubinemia
MedGen UID:
506201
Concept ID:
CN007281
Finding
An increased amount of unconjugated (indirect) bilurubin in the blood.

Professional guidelines

PubMed

Relling MV, McDonagh EM, Chang T, Caudle KE, McLeod HL, Haidar CE, Klein T, Luzzatto L; Clinical Pharmacogenetics Implementation Consortium
Clin Pharmacol Ther 2014 Aug;96(2):169-74. Epub 2014 May 2 doi: 10.1038/clpt.2014.97. [Epub ahead of print] PMID: 24787449Free PMC Article

Recent clinical studies

Etiology

Tanphaichitr VS, Hirono A, Pung-amritt P, Treesucon A, Wanachiwanawin W
Ann Hematol 2011 Jul;90(7):769-75. Epub 2011 Feb 8 doi: 10.1007/s00277-010-1153-4. [Epub ahead of print] PMID: 21302115
Mehta A, Mason PJ, Vulliamy TJ
Baillieres Best Pract Res Clin Haematol 2000 Mar;13(1):21-38. PMID: 10916676
Rovira A, Vulliamy T, Pujades MA, Luzzatto L, Corrons JL
Br J Haematol 1995 Sep;91(1):66-71. PMID: 7577654
Kojima H
Nihon Ketsueki Gakkai Zasshi 1972 Feb;35(1):20-31. PMID: 4264123
Prins HK
Humangenetik 1970;9(3):254-5. PMID: 5451690

Diagnosis

Tanphaichitr VS, Hirono A, Pung-amritt P, Treesucon A, Wanachiwanawin W
Ann Hematol 2011 Jul;90(7):769-75. Epub 2011 Feb 8 doi: 10.1007/s00277-010-1153-4. [Epub ahead of print] PMID: 21302115
Mason PJ, Bautista JM, Gilsanz F
Blood Rev 2007 Sep;21(5):267-83. Epub 2007 Jul 3 doi: 10.1016/j.blre.2007.05.002. [Epub ahead of print] PMID: 17611006
Ainoon O, Boo NY, Yu YH, Cheong SK, Hamidah HN
Hematology 2006 Apr;11(2):113-8. doi: 10.1080/10245330500155184. PMID: 16753852
Jablonska-Skwiecinska E, Lewandowska I, Plochocka D, Topczewski J, Zimowski JG, Klopocka J, Burzynska B
Hum Mutat 1999;14(6):477-84. doi: 10.1002/(SICI)1098-1004(199912)14:6<477::AID-HUMU6>3.0.CO;2-X. PMID: 10571945
Jaffé ER
Hosp Pract (Off Ed) 1991 Sep 15;26(9):57-60, 63-5, 69-70. PMID: 1894717

Therapy

Filosa S, Giacometti N, Wangwei C, De Mattia D, Pagnini D, Alfinito F, Schettini F, Luzzatto L, Martini G
Am J Hum Genet 1996 Oct;59(4):887-95. PMID: 8808605Free PMC Article
Vives Corrons JL, Feliu E, Pujades MA, Cardellach F, Rozman C, Carreras A, Jou JM, Vallespí MT, Zuazu FJ
Blood 1982 Feb;59(2):428-34. PMID: 7055648
Ektare AM, Baxi AJ
J Postgrad Med 1972 Apr;18(2):51-67. PMID: 4558428
Westring DW, Pisciotta AV
Arch Intern Med 1966 Oct;118(4):385-90. PMID: 5925237
Zipursky A, Rowland M, Peters JC, Israels LG
Can Med Assoc J 1965 Nov 27;93(22):1141-6. PMID: 5320918Free PMC Article

Prognosis

Tanphaichitr VS, Hirono A, Pung-amritt P, Treesucon A, Wanachiwanawin W
Ann Hematol 2011 Jul;90(7):769-75. Epub 2011 Feb 8 doi: 10.1007/s00277-010-1153-4. [Epub ahead of print] PMID: 21302115
Grabowska D, Jablonska-Skwiecinska E, Plochocka D, Chelstowska A, Lewandowska I, Witos I, Majewska Z, Rokicka-Milewska R, Burzynska B
Blood Cells Mol Dis 2004 Jan-Feb;32(1):124-30. PMID: 14757426
Clarke JL, Vulliamy TJ, Roper D, Mesbah-Namin SA, Wild BJ, Walker JI, Will AM, Bolton-Maggs PH, Mason PJ, Layton DM
Blood Cells Mol Dis 2003 May-Jun;30(3):258-63. PMID: 12737943
van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gómez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D
Blood 2002 Aug 1;100(3):1026-30. PMID: 12130518
Hirono A, Fujii H, Miwa S
Blood 1995 Feb 15;85(4):1118-21. PMID: 7849299

Clinical prediction guides

Tanphaichitr VS, Hirono A, Pung-amritt P, Treesucon A, Wanachiwanawin W
Ann Hematol 2011 Jul;90(7):769-75. Epub 2011 Feb 8 doi: 10.1007/s00277-010-1153-4. [Epub ahead of print] PMID: 21302115
van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gómez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D
Blood 2002 Aug 1;100(3):1026-30. PMID: 12130518
Ravindranath Y, Beutler E
Am J Hematol 1987 Apr;24(4):357-63. PMID: 3565372
Vives Corrons JL, Pujades A
Hum Genet 1982;60(3):216-21. PMID: 7106752
Arnold H, Löhr GW, Hasslinger K, Ludwig R
Hum Genet 1981;57(2):226-9. PMID: 7228040

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...