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Sickle cell disease

From Wikipedia
sickle-cell disease
rare disease, class of disease
Subclass ofautosomal recessive disease, hemoglobinopathy, congenital hemolytic anemia, blood protein disease, disease Edit
Facet givemalaria Edit
Health specialtyhematology Edit
Drug or therapy used for treatmentsodium phenylbutyrate Edit
Genetic associationNPRL3, BCL11A, HBB Edit
ICD-9-CM282.6, 282.60, 282.63 Edit
NCI Thesaurus IDC34383, C34676 Edit

Sickle cell disease (SCD), dem sanso simply call sickle cell, be a group of inherited haemoglobin-related blood disorders.[1] De most common type be known as sickle cell anemia.[1] Sickle cell anemia dey result in an abnormality insyd de oxygen-carrying protein haemoglobin dem find insyd red blood cells.[1] Dis dey lead to de red blood cells adopting an abnormal sickle-like shape under certain circumstances. Plus dis shape, dem be unable to deform as dem pass thru capillaries, wey dey cause blockages.[1]

Problems insyd sickle cell disease typically dey begin around 5 to 6 months of age.[2] Chaw health problems fi develop, such as attacks of pain (dem know as a sickle cell crisis) insyd joints, anemia, swelling insyd de hands den feet, bacterial infections, dizziness[3] den stroke.[2] De probability of severe symptoms, wey dey include long-term pain, dey increase plus age.[1] Widout treatment, people plus sickle cell disease rarely dey reach adulthood, buh plus good healthcare, median life expectancy be between 58 den 66 years.[4][5] All of de major organs be affected by sickle cell disease. De liver, heart, kidneys, lungs, gallbladder, eyes, bones, den joints fi be damaged from de abnormal functions of de sickle cells den dema inability to effectively flow thru de small blood vessels.[6]

Sickle cell disease dey occur wen a person inherit two abnormal copies of de β-globin gene wey dey make haemoglobin, one from each parent.[7] De abnormal gene dey generate haemoglobin S (HbS) wich dey change de properties of red blood cells.[1] A sickle cell crisis dey occur wen red blood cells switch from de normal saucer-like shape to a sickle-like shape wich fi obstruct small blood vessels; an attack fi be set off by temperature changes, stress, dehydration, den high altitude.[2] A person plus a single abnormal gene usually no dey get symptoms wey na dem say e get sickle cell trait,[7] dese people sanso be referred to as carriers.[8] Diagnosis be by a blood test, den sam countries dey test all babies at birth for de disease.[9] Diagnosis of de unborn foetus sanso be possible during pregnancy.[9]

De care of people plus sickle cell disease fi include infection prevention plus vaccination den antibiotics, high fluid intake, folic acid supplementation, den pain medication.[8][10] Oda measures fi include blood transfusion den de medication hydroxycarbamide (hydroxyurea).[10] Insyd 2023, na dem approve new gene therapies wey dey involve de genetic modification den replacement of blood forming stem cells insyd de bone marrow.[11][12][13]

As of 2021, sickle cell disease be estimated to affect about 7.7 million people worldwide, directly dey cause an estimated 34,000 annual deaths den a contributory factor to a further 376,000 deaths.[14][15] About 80% of sickle cell disease cases be believed to occur insyd sub-Saharan Africa.[16] E sanso dey occur to a lesser degree among people insyd parts of India, Southern Europe, West Asia, North Africa den among people of African origin (sub-Saharan) wey dey live insyd oda parts of de world.[17] Na dem first describe de condition insyd de medical literature by American physician James B. Herrick insyd 1910.[18][19] Insyd 1949, na ein genetic transmission be determined by E. A. Beet den J. V. Neel.[19] Insyd 1954, na dem establish say carriers of de abnormal gene be protected to sam degree against malaria,[19] wich dey account for ein persistence insyd populations dem threaten by malaria.[20]

References

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  1. 1 2 3 4 5 6 "What Is Sickle Cell Disease?". National Heart, Lung, and Blood Institute. 30 September 2024. Retrieved 26 October 2024.
  2. 1 2 3 "Sickle Cell Disease – Symptoms". National Heart, Lung, and Blood Institute. 20 August 2024. Retrieved 26 October 2024.
  3. ↑ Nelson MD, Bennett DM, Lehman ME, Okonji AI (December 2022). "Dizziness, Falls, and Hearing Loss in Adults Living With Sickle Cell Disease". American Journal of Audiology. 31 (4): 1178–1190. doi:10.1044/2022_AJA-22-00059. ISSN 1558-9137. PMID 36251873.
  4. ↑ "Sickle Cell Anemia: Symptoms, What It Is, Causes & Treatment". Cleveland Clinic. Retrieved 8 May 2024.
  5. ↑ "Sickle cell disease: What is the prognosis?". National Institute for Health and Care Excellence. July 2021. Retrieved 25 October 2024.
  6. ↑ "Sickle Cell Disease – How Sickle Cell Disease May Affect Your Health". National Heart, Lung, and Blood Institute. 23 April 2024. Retrieved 25 July 2024.
  7. 1 2 "Sickle Cell Disease – Causes and Risk Factors". National Heart, Lung, and Blood Institute. 20 August 2024. Retrieved 26 October 2024.
  8. 1 2 "Sickle-cell disease and other haemoglobin disorders Fact sheet N°308". World Health Organisation. January 2011. Archived from the original on 9 March 2016. Retrieved 8 March 2016.
  9. 1 2 "Sickle Cell Disease – Diagnosis". National Heart, Lung, and Blood Institute. 9 September 2024. Retrieved 26 October 2024.
  10. 1 2 "Sickle Cell Disease – Treatment". National Heart, Lung, and Blood Institute. 30 September 2024. Retrieved 26 October 2024.
  11. ↑ "FDA Approves First Gene Therapies to Treat Patients with Sickle Cell Disease". U.S. Food and Drug Administration (FDA). 8 December 2023. Archived from the original on 8 December 2023. Retrieved 8 December 2023.
  12. ↑ Wilkinson E (November 2023). "UK regulator approves "groundbreaking" gene treatment for sickle cell and β thalassaemia". BMJ. 383: 2706. doi:10.1136/bmj.p2706. ISSN 1756-1833. PMID 37973171. S2CID 265264939.
  13. ↑ Singh A, Irfan H, Fatima E, Nazir Z, Verma A, Akilimali A (May 2024). "Revolutionary breakthrough: FDA approves Casgevy, the first CRISPR/Cas9 gene therapy for sickle cell disease". Annals of Medicine and Surgery. 86 (8): 4555–4559. doi:10.1097/MS9.0000000000002146. PMC 11305803. PMID 39118728.
  14. ↑ Thomson AM, McHugh TA, Oron AP, Teply C, Lonberg N, Vilchis Tella V, Wilner LB, Fuller K, Hagins H, Aboagye RG, Aboye MB, Abu-Gharbieh E, Abu-Zaid A, Addo IY, Ahinkorah BO, Ahmad A, Alryalat SA, Amu H, Aravkin AY, Arulappan J, Atout MM, Badiye AD, Bagherieh S, Banach M, Banakar M, Bardhan M, Barrow A, Bedane DA, Bensenor IM, Bhagavathula AS (August 2023). "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". The Lancet. Haematology. 10 (8): e585 – e599. doi:10.1016/S2352-3026(23)00118-7. ISSN 2352-3026. PMC 10390339. PMID 37331373.
  15. ↑ "Sickle cell disorders – Level 4 cause". Institute for Health Metrics and Evaluation. Retrieved 17 December 2024.
  16. ↑ Rees DC, Williams TN, Gladwin MT (December 2010). "Sickle-cell disease". Lancet. 376 (9757): 2018–2031. doi:10.1016/s0140-6736(10)61029-x. PMID 21131035. S2CID 29909566.
  17. ↑ Elzouki AY (2012). Textbook of clinical pediatrics (2 ed.). Berlin: Springer. p. 2950. ISBN 978-3-642-02201-2.
  18. ↑ Savitt TL, Goldberg MF (January 1989). "Herrick's 1910 case report of sickle cell anemia. The rest of the story". The Journal of the American Medical Association. 261 (2): 266–271. doi:10.1001/jama.261.2.266. PMID 2642320.
  19. 1 2 3 Serjeant GR (December 2010). "One hundred years of sickle cell disease". British Journal of Haematology. 151 (5): 425–429. doi:10.1111/j.1365-2141.2010.08419.x. PMID 20955412.
  20. ↑ Allison, A.C. (1954). "Notes on sickle-cell polymorphism". Annals of Human Genetics. 19 (1): 39–51. Retrieved Dec 26, 2025.

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