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Sigdcelleanemi

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Definisjon:
Autosomal recessiv arvelig tilstand med unormalt hemoglobin (HbS) som medfører normocytær hemolytisk anemi av varierende alvorlighetsgrad. Folatmangel, acidose, hypoksemi, dehydrering og infeksjon disponerer for sigdcellekrise
Forekomst:
Betydelig geografisk variasjon i forekomst, i ekvatorbeltet av Afrika er forekomsten av heterozygote bærere 10-30%. I Norge bor det noen få homozygote individer (under 100?)
Symptomer:
Ikterus, gallestein, hepatosplenomegali, dårlig sårtilheling, veksthemming hos barn. Anfall med vaso-okklusive kriser og iskemiske komplikasjoner
Funn:
Pasienten virker syk, hepatosplenomegali og sekvele etter vaso-okklusiv episode kan ofte påvises
Diagnostikk:
Laboratorieundersøkelser påviser hemolyse, reticulocytose og Hgb S ved elektroforese. Blodutstryket viser rikelig med sigdceller
Behandling:
Folat-substitusjon og blodtransfusjoner i forbindelse med aplastiske og hemolytiske kriser. God smertebehandling, rikelig hydrering og ev. oksygen. Utskiftingstransfusjon kan være nødvendig, og allogen stamcelletransplantasjon kan være aktuelt
  • Bjørnar Grenne, PhD, konst. overlege, Klinikk for hjertemedisin, St. Olavs Hospital, Trondheim
  1. Yawn BP, John-Sowah J. Management of sickle cell disease: recommendations from the 2014 expert panel report. Am Fam Physician. 2015 Dec 15;92(12):1069-1076A.
  2. Stuart MJ, Nagel RI. Sickle-cell disease. Lancet 2004; 364: 1343-60. PubMed  
  3. Mehta SR, Afenyi-Annan A, Lottenberg R. Opportunities to improve outcomes in sickle cell disease. Am Fam Physician 2006; 74: 303-10. PubMed  
  4. Connes P, Lamarre Y, Waltz X, et al. Haemolysis and abnormal haemorheology in sickle cell anaemia. Br J Haematol. 2014;165(4):564–572.
  5. Roberts L, O'Driscoll S, Dick MC, et al. Stroke prevention in the young child with sickle cell anaemia. Ann Hematol 2009; 88: 943-6. PubMed  
  6. Smith WR, Penberthy LT, Bovbjerg VE, et al. Daily assessment of pain in adults with sickle cell disease. Ann Intern Med. 2008;148(2):94–101.
  7. Rees DC, Olujohungbe AD, Parker NE, et al. Guidelines for management of the acute painful crisis in sickle cell disease. Br J Haematol 2003; 120: 744-52. PubMed  
  8. Booth C, Inusa B, Obaro SK. Infection in sickle cell disease: a review. Int J Infect Dis. 2010;14(1):e2–e12.
  9. Hsieh MM, Fitzhugh CD, Weitzel RP, et al. Nonmyeloablative HLA-matched sibling allogeneic hematopoietic stem cell transplantation for severe sickle cell phenotype. JAMA 2014; 312:48. doi: 10.1001/jama.2014.7192 DOI  
  10. Adams RJ, Brambilla D; Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) Trial Investigators. Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease. N Engl J Med. 2005; 353: 2769-78. PubMed  
  11. DeBaun MR, Gordon M, McKinstry RC, et al. Controlled Trial of Transfusions for Silent Cerebral Infarcts in Sickle Cell Anemia. N Engl J Med 2014; 371: 699-710. doi:10.1056/NEJMoa1401731 DOI  
  12. Wang WC, Ware RE, Miller ST, et al. Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet 2011; 377: 1663-72. PubMed  
  13. Stettler N, McKiernan CM, Melin C, et al. Proportion of adults with sickle cell anemia and pain crises receiving hydroxyurea. JAMA 2015; 313: 1671. doi:10.1001/jama.2015.3075 DOI  
  14. Hospital Healthcare Europe. Press release 14.10.2021. Crizanlizumab approved by NICE for preventing sickle cell crises hospitalhealthcare.com  
  15. U.S Food and drug administration. FDA approves new treatment for sickle celle disease. FDA News release 2017. www.fda.gov  
  16. Vichinsky E, Hoppe CC, Ataga KI, et al . A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease. N Engl J Med 2019. pmid:31199090 PubMed  
  17. Hirst C, Owusu-Ofori S. Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease. Cochrane Database of Systematic Reviews 2014, Issue 11. Art. No.: CD003427. DOI: 10.1002/14651858.CD003427.pub3. DOI  
  18. Abrams DI, Couey P, Dixit N, et al. Effect of Inhaled Cannabis for Pain in Adults With Sickle Cell Disease: A Randomized Clinical Trial. JAMA Netw Open. 2020 Jul 1;3(7):e2010874. PMID: 32678452 PubMed  
  19. Rankine-Mullings AE, Owusu-Ofori S. Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease. Cochrane Database of Systematic Reviews 2021, Issue 3. Art. No.: CD003427. The Cochrane Library  
  20. Gladwin MT, Kato GJ, Weiner D et. al. Nitric oxide for inhalation in the acute treatment of sickle cell pain crisis: a randomized controlled trial. JAMA 2011; 305: 893-902. Journal of the American Medical Association  
  21. Sasongko TH, Nagalla S, Ballas SK. Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease. Cochrane Database Syst Rev 2015; 6: CD009191. pmid:26041152 PubMed  
  22. Badawy SM, Payne AB. Association between clinical outcomes and metformin use in adults with sickle cell disease and diabetes mellitus. Blood Adv 2019; 3: 3297-306. pmid:31698459 PubMed  
  23. Kanter J, Liem RI, Bernaudin F, et al. American Society of Hematology 2021 guidelines for sickle cell disease: stem cell transplantation. Blood Adv 2021; 5: 3668-89. pmid:34581773 PubMed  
  24. Rodgers GP, George A, Strouse J. Hydroxyurea use in sickle cell disease. UpToDate, last updated Feb 26, 2021. UpToDate  
  25. Oniyangi O, Omari AAA. Malaria chemoprophylaxis in sickle cell disease. Cochrane Database of Systematic Reviews 2006, Issue 4. Art. No.: CD003489. DOI: 10.1002/14651858.CD003489.pub2. DOI  
  26. Allareddy V, Roy A, Lee MK, et al. Outcomes of acute chest syndrome in adult patients with sickle cell disease: predictors of mortality. PLoS One. 2014;9(4):e94387. Published 2014 Apr 16. PMID: 24740290 PubMed  
  27. Meremikwu MM. Sickle cell disease. Clin Evid 2003; 10: 21-36. PubMed  
  • Ingard Løge, spesialist allmennmedisin, redaktør NEL