Orak Hücre Hastalığı ve Sekestrasyon Krizi
Özet
Orak hücre hastalığı (OHH), kırmızı kan hücrelerindeki (KKH) hemoglobin molekülünü etkileyen ve hücrelerin orak benzeri bir şekil almasına neden olan kalıtsal genetik bozukluklar grubudur. β-globin genini etkileyen genetik bir mutasyondan kaynaklanır; bu mutasyon β-globin zincirinin altıncı pozisyonunda bulunan glutamik asitin valin ile yer değiştirmesi sonucu oluşur. Bu değişiklik, hemoglobin moleküllerinin (HbS) oksijensizleşme üzerine sert demetler halinde polimerleşmesine ve KKH’nin karakteristik olan orak şekline dönüşmesine neden olur. Bu oraklaşmış hücreler, endotel hücrelerine, trombositlere ve nötrofillere yapışarak kan akışını bozar ve vazo-oklüzyona yol açar. Ortaya çıkan iskemilerle birlikte komplikasyonlar oluşmaya başlar ve birçok sistemin etkilenmesi sonucu farklı farklı kliniklerle prezente olan bir hastalık olarak karşımıza çıkar. Bu bölümde OHH ile ilgili bilgi edinerek karşılaşabileceğimiz klinikler, komplikasyonlar, tanı için yardımcı tetkikler, beraberinde uygulanan tedavilerle birlikte özellikle sekestrasyon krizi için dikkat etmemiz gereken unsurları ele alacağız.
Sickle cell disease (SCD) is a group of inherited genetic disorders that affect the hemoglobin molecule in red blood cells (RBCs), causing the cells to take on a sickle-like shape. It results from a genetic mutation affecting the β-globin gene; this mutation occurs as a result of the replacement of glutamic acid with valine at the sixth position of the β-globin chain. This change causes hemoglobin molecules (HbS) to polymerize into rigid bundles upon deoxygenation, transforming into the characteristic sickle shape of RBCs. These sickled cells adhere to endothelial cells, platelets, and neutrophils, disrupting blood flow and leading to vaso-occlusion. Complications begin to develop with the resulting ischemia, and it presents as a disease with different clinical manifestations due to the involvement of many systems. In this section, we will learn about SCD, the clinical manifestations we may encounter, complications, diagnostic tests, and treatments, as well as the elements we should pay attention to, especially regarding sequestration crisis.
Referanslar
Booth C, Inusa B, Obaro SK. Infection in sickle cell anemia: A review. Int J Infect Dis. 2010;14:e2–e12. doi:10.1016/j.ijid.2009.03.010
Tebbi CK. Sickle cell disease: A review. Hemato. 2022;3(2):341–366. doi:10.3390/hemato3020024
GBD 2021 Sickle Cell Disease Collaborators. Global, regional and national prevalence and mortality burden of sickle cell disease, 2000–2021: A systematic analysis from the Global Burden of Disease Study 2021. Lancet Haematol. 2023;10:e585–e599. doi:10.1016/S2352-3026(23)00118-7
Inusa BPD, Hsu LL, Kohli N, et al. Sickle cell disease—Genetics, pathophysiology, clinical presentation and treatment. Int J Neonatal Screen. 2019;5(2):20. doi:10.3390/ijns5020020
Akintunde D, Ezihe-Ejiofor A, Ogbah J, et al. An overview of sickle cell disease and chronic pain and perioperative considerations. Curr Opin Anaesthesiol. 2025;38(3):281–286. doi:10.1097/ACO.0000000000001461
Brandow AM, Liem RI. Advances in the diagnosis and treatment of sickle cell disease. J Hematol Oncol. 2022;15:20. doi:10.1186/s13045-022-01237-z
Brousse V, Buffet P, Rees D. The spleen and sickle cell disease: The sick(led) spleen. Br J Haematol. 2014;166(2):165–176.
Ben Khaled M, Ouederni M, Mankai Y, et al. Prevalence and predictive factors of splenic sequestration crisis among 423 pediatric patients with sickle cell disease in Tunisia. Blood Cells Mol Dis. 2020;80:102374.
Tanabe P, Spratling R, Smith D, et al. Understanding the complications of sickle cell disease. Am J Nurs. 2019;119(6):26–35. doi:10.1097/01.NAJ.0000559779.40570.2c
Darbari DS, Sheehan VA, Ballas SK. The vaso-occlusive pain crisis in sickle cell disease: Definition, pathophysiology, and management. Eur J Haematol. 2020;105(3):237–246. doi:10.1111/ejh.13430
Pickering LK, Baker CJ, Kimberlin DW, et al. Red Book: 2012 Report of the Committee on Infectious Diseases. 29th ed. Elk Grove Village (IL): American Academy of Pediatrics; 2012.
National Heart, Lung, and Blood Institute. Evidence-based management of sickle cell disease: Expert panel report, 2014. Bethesda (MD): NHLBI; 2014. Available from: https://www.nhlbi.nih.gov
Elendu C, Amaechi DC, Alakwe-Ojimba CE, et al. Understanding sickle cell disease: Causes, symptoms, and treatment options. Medicine (Baltimore). 2023;102(38):e35237. doi:10.1097/MD.0000000000035237
Addo OY, Yu EX, Williams AM, et al. Evaluation of hemoglobin cutoff levels to define anemia among healthy individuals. JAMA Netw Open. 2021;4:e2119123.
Hebbel RP. Ischemia-reperfusion injury in sickle cell anemia: Relationship to acute chest syndrome, endothelial dysfunction, arterial vasculopathy, and inflammatory pain. Hematol Oncol Clin North Am. 2014;28:181–198.
Adeyemo T, Ojewunmi O, Oyetunji A. Evaluation of high performance liquid chromatography (HPLC) pattern and prevalence of beta-thalassaemia trait among sickle cell disease patients in Lagos, Nigeria. Pan Afr Med J. 2014;18:71.
Newman B, Wilkerson RG. Emergency department management of patients with sickle cell disease. Emerg Med Clin North Am. 2024;26(8):1–24.
Jacobs-McFarlane CT, et al. Sickle cell disease: Treatment options of the past, present, and future. Am J Nurs. 2026;126(1):26–33. doi:10.1097/AJN.0000000000000216
Chou ST, Alsawas M, Fasano RM, et al. American Society of Hematology 2020 guidelines for sickle cell disease: Transfusion support. Blood Adv. 2020;4(2):327–355. doi:10.1182/bloodadvances.2019001143
Coates TD, Wood JC. How we manage iron overload in sickle cell patients. Br J Haematol. 2017;177(5):703–716. doi:10.1111/bjh.14575
Ataga KI, Kutlar A, Kanter J, et al. Crizanlizumab for the prevention of pain crises in sickle cell disease. N Engl J Med. 2017;376(5):429–439. doi:10.1056/NEJMoa1611770
Gluckman E, Cappelli B, Bernaudin F, et al. Sickle cell disease: An international survey of results of HLA-identical sibling hematopoietic stem cell transplantation. Blood. 2017;129(11):1548–1556. doi:10.1182/blood-2016-10-745711
Beck CE, Trottier ED, Kirby-Allen M, Pastore Y. Acute complications in children with sickle cell disease: Prevention and management. Paediatr Child Health. 2022;27(1):50–62.
Kane I, Kumar A, Atalla E. Splenic sequestration crisis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025.
Azar S, Wong TE. Sickle cell disease: A brief update. Med Clin North Am. 2017;101(2):375–393.
Referanslar
Booth C, Inusa B, Obaro SK. Infection in sickle cell anemia: A review. Int J Infect Dis. 2010;14:e2–e12. doi:10.1016/j.ijid.2009.03.010
Tebbi CK. Sickle cell disease: A review. Hemato. 2022;3(2):341–366. doi:10.3390/hemato3020024
GBD 2021 Sickle Cell Disease Collaborators. Global, regional and national prevalence and mortality burden of sickle cell disease, 2000–2021: A systematic analysis from the Global Burden of Disease Study 2021. Lancet Haematol. 2023;10:e585–e599. doi:10.1016/S2352-3026(23)00118-7
Inusa BPD, Hsu LL, Kohli N, et al. Sickle cell disease—Genetics, pathophysiology, clinical presentation and treatment. Int J Neonatal Screen. 2019;5(2):20. doi:10.3390/ijns5020020
Akintunde D, Ezihe-Ejiofor A, Ogbah J, et al. An overview of sickle cell disease and chronic pain and perioperative considerations. Curr Opin Anaesthesiol. 2025;38(3):281–286. doi:10.1097/ACO.0000000000001461
Brandow AM, Liem RI. Advances in the diagnosis and treatment of sickle cell disease. J Hematol Oncol. 2022;15:20. doi:10.1186/s13045-022-01237-z
Brousse V, Buffet P, Rees D. The spleen and sickle cell disease: The sick(led) spleen. Br J Haematol. 2014;166(2):165–176.
Ben Khaled M, Ouederni M, Mankai Y, et al. Prevalence and predictive factors of splenic sequestration crisis among 423 pediatric patients with sickle cell disease in Tunisia. Blood Cells Mol Dis. 2020;80:102374.
Tanabe P, Spratling R, Smith D, et al. Understanding the complications of sickle cell disease. Am J Nurs. 2019;119(6):26–35. doi:10.1097/01.NAJ.0000559779.40570.2c
Darbari DS, Sheehan VA, Ballas SK. The vaso-occlusive pain crisis in sickle cell disease: Definition, pathophysiology, and management. Eur J Haematol. 2020;105(3):237–246. doi:10.1111/ejh.13430
Pickering LK, Baker CJ, Kimberlin DW, et al. Red Book: 2012 Report of the Committee on Infectious Diseases. 29th ed. Elk Grove Village (IL): American Academy of Pediatrics; 2012.
National Heart, Lung, and Blood Institute. Evidence-based management of sickle cell disease: Expert panel report, 2014. Bethesda (MD): NHLBI; 2014. Available from: https://www.nhlbi.nih.gov
Elendu C, Amaechi DC, Alakwe-Ojimba CE, et al. Understanding sickle cell disease: Causes, symptoms, and treatment options. Medicine (Baltimore). 2023;102(38):e35237. doi:10.1097/MD.0000000000035237
Addo OY, Yu EX, Williams AM, et al. Evaluation of hemoglobin cutoff levels to define anemia among healthy individuals. JAMA Netw Open. 2021;4:e2119123.
Hebbel RP. Ischemia-reperfusion injury in sickle cell anemia: Relationship to acute chest syndrome, endothelial dysfunction, arterial vasculopathy, and inflammatory pain. Hematol Oncol Clin North Am. 2014;28:181–198.
Adeyemo T, Ojewunmi O, Oyetunji A. Evaluation of high performance liquid chromatography (HPLC) pattern and prevalence of beta-thalassaemia trait among sickle cell disease patients in Lagos, Nigeria. Pan Afr Med J. 2014;18:71.
Newman B, Wilkerson RG. Emergency department management of patients with sickle cell disease. Emerg Med Clin North Am. 2024;26(8):1–24.
Jacobs-McFarlane CT, et al. Sickle cell disease: Treatment options of the past, present, and future. Am J Nurs. 2026;126(1):26–33. doi:10.1097/AJN.0000000000000216
Chou ST, Alsawas M, Fasano RM, et al. American Society of Hematology 2020 guidelines for sickle cell disease: Transfusion support. Blood Adv. 2020;4(2):327–355. doi:10.1182/bloodadvances.2019001143
Coates TD, Wood JC. How we manage iron overload in sickle cell patients. Br J Haematol. 2017;177(5):703–716. doi:10.1111/bjh.14575
Ataga KI, Kutlar A, Kanter J, et al. Crizanlizumab for the prevention of pain crises in sickle cell disease. N Engl J Med. 2017;376(5):429–439. doi:10.1056/NEJMoa1611770
Gluckman E, Cappelli B, Bernaudin F, et al. Sickle cell disease: An international survey of results of HLA-identical sibling hematopoietic stem cell transplantation. Blood. 2017;129(11):1548–1556. doi:10.1182/blood-2016-10-745711
Beck CE, Trottier ED, Kirby-Allen M, Pastore Y. Acute complications in children with sickle cell disease: Prevention and management. Paediatr Child Health. 2022;27(1):50–62.
Kane I, Kumar A, Atalla E. Splenic sequestration crisis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025.
Azar S, Wong TE. Sickle cell disease: A brief update. Med Clin North Am. 2017;101(2):375–393.
