Hopp til innhold
NHI.no
Annonse

Sigdcelleanemi: Diagnostikk

Innhold i artikkelen

For å stille diagnosen er det nødvendig å ta blodprøver. I land med høy forekomst av sykdommen er det vanlig at det gjøres screening ved fødsel. Diagnosen bekreftes i blodprøver hvor man påviser det syke hemoglobinet (HbS). Genfeilen påvises i DNA-test. 

Annonse

Foreldre som har stor risiko for å få barn med sigdcelleanemi, kan få utført fostervannsprøve, som med stor sikkerhet fastslår om barnet vil ha alvorlig sykdom eller ikke. Dette er særlig aktuelt for foreldre som vet at de er bærere av sykdomsgenet, dersom det er mange som har sigdcelleanemi i familien eller dersom de tidligere har født barn med sykdommen.

Vil du vite mer

Dette dokumentet er basert på det profesjonelle dokumentet Sigdcelleanemi . Referanselisten for dette dokumentet vises nedenfor

  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. Græsdal K, Gundersen K, Holm B, Waage A. Talassemi og sigdcellesykdom i Norge. Tidsskr Nor Lægeforen 2001; 121: 678-80. Tidsskrift for Den norske legeforening
  5. Nagel RL. Malaria and hemoglobinopathies. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of hemoglobin: genetics, pathophysiology, clinical management. Cambridge, UK: Cambridge University Press, 2001.
  6. Connes P, Lamarre Y, Waltz X, et al. Haemolysis and abnormal haemorheology in sickle cell anaemia. Br J Haematol. 2014;165(4):564–572.
  7. Gladwin MT, Rodgers GP. Pathogenesis and treatment of acute chest syndrome of sickle-cell anemia. The Lancet 2000; 355: 1476-8. The Lancet
  8. 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
  9. 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.
  10. Mantadakis E, Ewalt DH, Cavender JD, Rogers ZR, Buchanan GR. Outpatient penile aspiration and epinephrine irrigation for young patients with sickle cell anemia and prolonged priapism. Blood 2000; 95: 78-82. Blood
  11. 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
  12. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease: life expectancy and risk factors for early death. N Engl J Med 1994; 330: 1639-44. New England Journal of Medicine
  13. Vichinsky EP, Neumayr LD, Earles AN, et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. N Engl J Med 2000; 342: 1855-65. New England Journal of Medicine
  14. Booth C, Inusa B, Obaro SK. Infection in sickle cell disease: a review. Int J Infect Dis. 2010;14(1):e2–e12.
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. U.S Food and drug administration. FDA approves new treatment for sickle celle disease. FDA News release 2017. www.fda.gov
  23. Vichinsky E. New therapies in sickle cell disease. The Lancet 2002; 360: 629-31. The Lancet
  24. 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
  25. 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
  26. 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
  27. 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
  28. Hirst C, Owusu-Ofori S. Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease. Cochrane Database of Systematic Reviews 2012, Issue 9. Art. No.: CD003427. DOI: 10.1002/14651858.CD003427.pub2. DOI
  29. Ferster A, Vermylen C, Cornu G, et al. Hydroxyurea for treatment of severe sickle cell anemia: a pediatric clinical trial. Blood 1996;88:1960-1964. Blood
  30. Charache S, Terrin M, Moore RD, et al. Effect of hydroxyurea on the frequency of painful crisis in sickle cell anemia. N Engl J Med 1995;332:1317-1322. New England Journal of Medicine
  31. 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
  32. Cohen AR, Norris CF, Smith-Whitley K. Transfusion therapy for sickle cell disease. In: Capon SM, Chambers LA, eds. New directions in pediatric hematology. Bethesda MD: American Association of Blood Banks, 1996:39-85.
  33. Ohene-Frempong K, Weiner SJ, Sleeper LA, et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood 1998; 91: 288-94. Blood
  34. Platt OS, Brambilla DJ, Rosse WF et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med 1994; 330: 1639-44. New England Journal of Medicine
  35. Overtuff GD, Powars D, Baraff LJ. Bacterial meningitis and septicemia in sickle cell disease. Am J Dis Child 1977;131:784-787. PubMed
  36. Meremikwu MM. Sickle cell disease. Clin Evid 2003; 10: 21-36. PubMed
Annonse
Annonse