Skip to main content
SpringerLink
Log in

SIKKELCELZIEKTE

  • Published:
Bijblijven

Samenvatting

Door toenemende wereldwijde migratie is sikkelcelziekte geen exotische aandoening meer in West-Europa. Sikkelcelziekte als zodanig is relatief zeldzaam, dragerschap voor sikkelcelziekte komt frequent voor. Sikkelcelziekte is een complexe aandoening met een sterk wisselend beloop, van grotendeels asymptomatisch tot overlijden op jonge leeftijd. Met relatief eenvoudige maatregelen, zoals screening, preventieve medicatie en vaccinaties, is een flinke gezondheidswinst te behalen. Meer geavanceerde tweedelijns behandelstrategieën kunnen deze verbetering in beloop en prognose verder doen toenemen. Stamceltransplantatie is de enige manier om sikkelcelziekte te genezen, maar niet universeel toepasbaar. De huisarts heeft een belangrijke faciliterende en coördinerende rol in diagnostiek, behandeling en begeleiding van de patiënten met sikkelcelziekte en hun familie. Daarnaast heeft de huisarts een spilfunctie in het opsporen, counselen en eventueel verwijzen van dragers van sikkelcelziekte.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Literatuur

  1. Serjeant GR, Serjeant BE. Sickle cell disease. Oxford: Oxford University Press; 2001.

    Google Scholar 

  2. Allison AC. Protection afforded by sickle-cell trait against subtertian malarial infection. Br Med J. 1954;1(4857):290–4.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. Chakravorty S, Williams TN. Sickle cell disease: a neglected chronic disease of increasing global health importance. Arch Dis Child. 2015;100(1):48–53.

    Article  PubMed Central  PubMed  Google Scholar 

  4. Brousse V, Makani J, Rees DC. Management of sickle cell disease in the community. BMJ. 2014;348:g1765.

    Article  PubMed  Google Scholar 

  5. Platt OS, Brambilla DJ, Rosse WF, Paul F, Milner PF, Oswaldo Castro O, et al. Mortality in sickle cell disease – life expectancy and risk factors for early death. N Engl J Med. 1994;330:1639–44.

    Article  CAS  PubMed  Google Scholar 

  6. Wierenga KJ, Hambleton IR, Lewis NA. Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study. Lancet 2001;357(9257):680–3.

    Article  CAS  PubMed  Google Scholar 

  7. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86:480–7.

    Article  PubMed Central  PubMed  Google Scholar 

  8. Monitor en evaluatie van de neonatale hielprikscreening bij kinderen 2007–12. www.rivm.nl/Documenten_en_publicaties/Algemeen_Actueel/Uitgaven/Preventie_Ziekte_Zorg/Hielprik/Monitor_en_evaluatie_van_de_neonatale_hielprikscreening_bij_kinderen.

  9. Gulbis B, Ferster A, Vertongen F. Hemoglobinopathies in Belgium. Belg J Hematol. 2010;1:50–6.

    Google Scholar 

  10. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet 2010;376(9757):2018–31.

    Article  CAS  PubMed  Google Scholar 

  11. McCurdy PR, Sherman AS. Irreversibly sickled cells and red cell survival in sickle cell anemia: a study with both DF32P and 51CR. Am J Med. 1978;64:253–8.

    Article  CAS  PubMed  Google Scholar 

  12. Sparkenbaugh E, Pawlinski R. Interplay between coagulation and vascular inflammation in sickle cell disease. Br J Haematol. 2013;162:3–14.

    Article  CAS  PubMed  Google Scholar 

  13. Serjeant GR, Serjeant BE, Thomas PW, et al. Human parvovirus infection in homozygous sickle cell disease. Lancet 1993;341:1237–40.

    Article  CAS  PubMed  Google Scholar 

  14. Platt OS, Thorington BD, Brambilla DJ, Milner PF, Rosse WF, Vichinsky E, Kinney TR. Pain in sickle cell disease. Rates and risk factors. N Engl J Med. 1991;325(1):11–6.

    Article  CAS  PubMed  Google Scholar 

  15. DeBaun MR, Armstrong FD, McKinstry RC, Ware RE, Vichinsky E, Kirkham FJ. Silent cerebral infarcts: a review on a prevalent and progressive cause of neurologic injury in sickle cell anemia. Blood 2012;119:4587–96.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  16. Thompson J, Reid M, Hambleton I, Serjeant GR. Albuminuria and renal function in homozygous sickle cell disease: observations from a cohort study. Arch Intern Med. 2007;167(7):701–8.

    Article  CAS  PubMed  Google Scholar 

  17. Broderick GA. Priapism and sickle-cell anemia: diagnosis and nonsurgical therapy. J Sex Med. 2012;9:88–103.

    Article  CAS  PubMed  Google Scholar 

  18. Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN. Sickle cell disease in Africa: a neglected cause of early childhood mortality. Am J Prev Med. 2011;41(6 Suppl 4):S398–405.

    Article  PubMed Central  PubMed  Google Scholar 

  19. Heijboer H, Tweel XW van den, Peters M, Knuist M, Prins J, Heymans HSA. Een jaar neonatale screening op sikkelcelziekte in het Emma Kinderziekenhuis/Academisch Medisch Centrum te Amsterdam. Ned Tijdschr Geneeskd. 2001;145:1795–9.

    CAS  PubMed  Google Scholar 

  20. Kaufmann JO, Krapels IP, Van Brussel BT, Zekveld-Vroon RC, Oosterwijk JC, Erp F van, Echtelt J van, et al. After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands? Public Health Genomics 2014;17:16–22.

    Article  CAS  PubMed  Google Scholar 

  21. Jans SM, El CG van, Houwaart ES, Westerman MJ, Janssens RJ, Lagro-Janssen AL, et al. A case study of haemoglobinopathy screening in the Netherlands: witnessing the past, lessons for the future. Ethn Health 2012;17:217–39.

    Article  PubMed Central  PubMed  Google Scholar 

  22. Heyningen AM van, Levenston MJ, Tamminga N, Scoop-Martijn EG, Wever RM, Verhagen AA, et al.. Estimated incidence of sickle-cell disease in Aruba and St. Maarten suggests cost-effectiveness of a universal screening programme for St. Maarten. West Indian Med J. 2009;58(4):301–4.

    PubMed  Google Scholar 

  23. Gulbis B, Cotton F, Ferster A, Ketelslegers O, Dresse MF, RongeÌ-Collard E, et al. Neonatal haemoglobinopathy screening in Belgium. J Clin Pathol. 2009;62:49–52.

  24. Peters M, Fijnvandraat K, Tweel XW van den, Garre FG, Giordano PC, Wouwe JP van, et al. One-third of the new paediatric patients with sickle cell disease in the Netherlands are immigrants and do not benefit from neonatal screening. Arch Dis Child. 2010;95(10):822–5.

    Article  CAS  PubMed  Google Scholar 

  25. NHG-werkgroep Anemie. NHG-Standaard Anemie(Eerste herziening). Huisarts Wet. 2014;57(10):528–36.

    Google Scholar 

  26. RIVM. Richtlijn voor preventie van infecties bij mensen met (functionele) hypo- en asplenie; februari 2012 (www.nvk.nl/portals/0/richtlijnen/asplenie/asplenie.pdf). Geraadpleegd april 2015.

  27. Yawn BP, Buchanan GR, Afenyi-Annan AN, et al. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA. 2014;312(10):1033–48.

    Article  PubMed  Google Scholar 

  28. Sharpe CC, Thein SL. Sickle cell nephropathy – a practical approach. Br J Haematol. 2011;155(3):287–97.

    Article  CAS  PubMed  Google Scholar 

  29. Adams RJ, McKie VC, Hsu L, Files B, Vichinsky E, Pegelow C, et al. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med. 1998;339(1):5–11.

    Article  CAS  PubMed  Google Scholar 

  30. Martí-Carvajal AJ, Knight-Madden JM, Martinez-Zapata MJ. Interventions for treating leg ulcers in people with sickle cell disease. Cochrane Database Syst Rev. 2014;12:CD008394.

    PubMed  Google Scholar 

  31. Chawla A, Sprinz PG, Welch J, Heeney M, Usmani N, Pashankar F, et al. Weight status of children with sickle cell disease. Pediatrics 2013;131:1168–73.

    Article  Google Scholar 

  32. Hyacinth THI, Gee BE, Hibberthe JM. Role of nutrition in sickle cell disease. Nutr Metab Insights. 2010;3:57–67.

    Article  PubMed Central  PubMed  Google Scholar 

  33. Suijker M, Roovers EA, Fijnvandraat CJ, Dors N, Rodrigues Pereira R, Giordano PC, et al. Hemoglobinopathie in de 21e eeuw, incidentie, diagnose en hielprikscreening. Ned Tijdschr Geneeskd. 2014;158:A7365.

    PubMed  Google Scholar 

  34. Gezondheidsraad. Neonatale screening: nieuwe aanbevelingen. Publicatienr. 2015/08. Den Haag: Gezondheidsraad, 2015.

Download references

Author information

Authors and Affiliations

  1. huisarts, Groningen

    A.J. Luteijn

  2. associate professor, Section of Genetics, Department of Paediatrics, Oklahoma University Health Sciences Center, Oklahoma City, OK

    Klaas J.J. Wierenga MD, MSc, FACMG

Authors
  1. A.J. Luteijn
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Klaas J.J. Wierenga MD, MSc, FACMG
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to A.J. Luteijn.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Luteijn, A., Wierenga, K. SIKKELCELZIEKTE. Bijblijven 31, 510–523 (2015). https://doi.org/10.1007/s12414-015-0063-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12414-015-0063-8

Search

Navigation