Familial pseudohyperkalemia in blood donors: A novel mutation with implications for transfusion practice

Transfusion

Volumn 54, Issue 12, 2014, Pages 3043-3050

  Bawazir, Waleed M ^a,b   Flatt, Joanna F ^a   Wallis, Jonathan P ^c   Rendon, Augusto ^d   Cardigan, Rebecca A ^a   New, Helen V ^a   Wiltshire, Michael ^a   Page, Lizanne ^a   Chapman, Catherine E ^a   Stewart, Gordon W ^e   Bruce, Lesley J ^a  

^a NHS BLOOD AND TRANSPLANT   (United Kingdom)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

^c NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM; ABC TRANSPORTER; ABCB6 PROTEIN, HUMAN;

ADULT; ARTICLE; BLOOD DONOR; BLOOD GAS ANALYSIS; BLOOD GAS ANALYZER; BLOOD SAFETY; BLOOD SAMPLING; CASE REPORT; COLD; CONTROLLED STUDY; DATA BASE; DNA DETERMINATION; DNA SEQUENCE; ERYTHROCYTE; ERYTHROCYTE TRANSFUSION; FAMILIAL PSEUDOHYPERKALEMIA; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERKALEMIA; MALE; PHENOTYPE; POPULATION; POTASSIUM BLOOD LEVEL; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD; SUPERNATANT; AMINO ACID SUBSTITUTION; BLOOD; BLOOD STORAGE; DONOR SELECTION; FEMALE; GENETIC DISORDER; GENETICS; MISSENSE MUTATION; NUCLEIC ACID DATABASE;

AMINO ACID SUBSTITUTION; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD DONORS; BLOOD PRESERVATION; DATABASES, NUCLEIC ACID; DONOR SELECTION; ERYTHROCYTES; FEMALE; GENE FREQUENCY; GENETIC DISEASES, INBORN; HUMANS; HYPERKALEMIA; MALE; MUTATION, MISSENSE; POTASSIUM;

EID: 84916940499     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/trf.12757     Document Type: Article

References (25)

1. Hess JR,. Red cell changes during storage. Transfus Apher Sci 2010; 43: 51-59.
2. Bruce LJ, Robinson HC, Guizouarn H, et al. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet 2005; 37: 1258-1263.
3. Bruce LJ, Guizouarn H, Burton NM, et al. The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. Blood 2009; 113: 1350-1357.
4. Flatt JF, Guizouarn H, Burton NM, et al. Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood 2011; 118: 5267-5277.
5. Zarychanski R, Schulz VP, Houston BL, et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 2012; 120: 1908-1915.
6. Andolfo I, Alper SL, Delaunay J, et al. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol 2013; 88: 66-72.
7. Stewart GW,. Hemolytic disease due to membrane ion channel disorders. Curr Opin Hematol 2004; 11: 244-250.
8. Stewart GW, Corrall RJ, Fyffe JA, et al. Familial pseudohyperkalaemia. A new syndrome. Lancet 1979; 2: 175-177.
9. Helias V, Saison C, Ballif BA, et al. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. Nat Genet 2012; 44: 170-173.
10. Gore DM, Chetty MC, Fisher J, et al. Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. Br J Haematol 2002; 117: 212-214.
11. National Blood Service. Guidelines for the blood transfusion services in the UK. 8th ed. London, UK: The Stationery Office; 2013. [cited 2013 Aug]. Available from: http://www.transfusionguidelines.org.uk/red-book
12. Guizouarn H, Borgese F, Gabillat N, et al. South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects. Br J Haematol 2011; 152: 655-664.
13. Delaunay J,. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol 2004; 41: 165-172.
14. Andolfo I, Alper SL, De Franceschi L, et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood 2013; 121: 3925-3935.
15. Carella M, d'Adamo AP, Grootenboer-Mignot S, et al. A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. Eur J Hum Genet 2004; 12: 1073-1076.
16. Hall TL, Barnes A, Miller JR, et al. Neonatal mortality following transfusion of red cells with high plasma potassium levels. Transfusion 1993; 33: 606-609.
17. Chen CH, Hong CL, Kau YC, et al. Fatal hyperkalemia during rapid and massive blood transfusion in a child undergoing hip surgery-a case report. Acta Anaesthesiol Sin 1999; 37: 163-166.
18. Baz EM, Kanazi GE, Mahfouz RA, et al. An unusual case of hyperkalaemia-induced cardiac arrest in a paediatric patient during transfusion of a "fresh" 6-day-old blood unit. Transfus Med 2002; 12: 383-386.
19. Smith HM, Farrow SJ, Ackerman JD, et al. Cardiac arrests associated with hyperkalemia during red blood cell transfusion: a case series. Anesth Analg 2008; 106: 1062-1069.
20. Lee AC, Reduque LL, Luban NL, et al. Transfusion-associated hyperkalemic cardiac arrest in pediatric patients receiving massive transfusion. Transfusion 2014; 54: 244-254.
21. Brown KA, Bissonnette B, McIntyre B,. Hyperkalaemia during rapid blood transfusion and hypovolaemic cardiac arrest in children. Can J Anaesth 1990; 37: 747-754.
22. Harvey B, Shann KG, Fitzgerald D, et al.; American Society of ExtraCorporeal Technology's International Consortium for Evidence-Based Perfusion and Pediatric Perfusion Committee. International pediatric perfusion practice: 2011 survey results. J Extra Corpor Technol 2012; 44: 186-193.
23. Vraets A, Lin Y, Callum JL,. Transfusion-associated hyperkalemia. Transfus Med Rev 2011; 25: 184-196.
24. Strauss RG,. RBC storage and avoiding hyperkalemia from transfusions to neonates & infants. Transfusion 2010; 50: 1862-1865.
25. Kleinman S, Busch MP, Murphy EL, et al. The National Heart, Lung, and Blood Institute Recipient Epidemiology and Donor Evaluation Study (REDS-III). The National Heart, Lung, and Blood Institute Recipient Epidemiology and Donor Evaluation Study (REDS-III): a research program striving to improve blood donor and transfusion recipient outcomes. Transfusion 2013; 54 (3 Pt 2): 942-955.