鐮刀型紅血球疾病
編輯歷史
| 時間 | 作者 | 版本 |
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| 2017-07-12 04:26 – 05:04 | r0 – r2 | |
顯示 diff+ 鐮刀型紅血球疾病
+ 英文連結:https://en.wikipedia.org/wiki/Sickle-cell_disease
+ 中文連結:https://zh.wikipedia.org/wiki/%E9%90%AE%E5%88%80%E5%9E%8B%E7%B4%85%E8%A1%80%E7%90%83%E7%96%BE%E7%97%85
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+ 中文引言可以參酌使用
+ 鐮刀型紅血球疾病(sickle-cell disease (SCD))，或稱鐮刀型細胞貧血症(sickle-cell anaemia (SCA))，是指由鐮刀型血紅蛋白（Hgb S或Hb S）所導致的一類遺傳性疾病的總稱，為基因突變中的錯義突變。在其聚多的類型裡，紅血球皆因失常的鐮刀型血紅蛋白的聚合而改變形狀，以致於失去了攜帶氧氣的能力。這個過程會傷害紅血球的細胞膜，並使其阻塞在血管內。如此使得其下流的組織無法得到氧氣，因而會導致局部缺血和梗塞。這是一種慢性疾病，患者一般都生活得很好，但不時會有週期性的疼痛。患者的平均壽命會因此被縮至四十歲。這種疾病在瘧疾曾經或還是很普遍的地區很普遍，特別常見於撒哈拉以南的非洲人口，加勒比、印度、中東和地中海周圍尤其是在希臘和義大利[1]。原因是此遺傳疾病與地中海型貧血一樣，具有抵禦瘧疾的優勢：瘧原蟲需要在紅血球中孵化，而鐮刀型紅血球容易破裂、死亡，寄居其內的瘧原蟲往往來不及發育成熟；且血紅蛋白聚合成的纖維長鏈對瘧原蟲而言不易消化，同樣影響發育。因此在瘧疾流行的時代，具有此遺傳基因的患者大量存活，結果反應在地理分布上。儘管如此，鐮刀型紅血球疾病作為遺傳疾病，可能發生在任何膚色和任何人種身上，不在盛行地區不代表不會發病。
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+ Sickle-cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.[1] The most common type is known as sickle-cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances.[1]Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain ("sickle-cell crisis"), anemia, bacterial infections, and stroke.[2] Long term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years.[1]
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+ '''鐮刀型紅血球疾病'''（'''Sickle-cell disease, SCD'''）是一組通常由[[遺傳|雙親遺傳而來]]的[[血液學|血液疾病]]<ref name=NIH2015What>{{cite web|title=What Is Sickle Cell Disease?|url=http://www.nhlbi.nih.gov/health/health-topics/topics/sca|website=National Heart, Lung, and Blood Institute|accessdate=8 March 2016|date=June 12, 2015}}</ref>。其中最常見的一種類型，叫做'''鎌狀紅血球貧血症'''（'''Sickle-cell anaemia, SCA'''）<!-- <ref name=NIH2015What/> -->。該疾病會引起[[紅血球]]中的載氧[[血紅蛋白]]異常。在某特定的情況下(通常是缺氧狀況)，紅血球會變成堅硬的鐮刀型<ref name=NIH2015What/> 。鐮刀狀紅血球疾病的問題通常會在五到六個月齡時發作<!-- <ref name=NIH2015Sign/> -->。患者可能會出現多項健康問題，例如突發的疼痛（鐮刀型貧血危機，sickle-cell crisis）、[[貧血]]、[[細菌感染]]與[[中風]]<ref name=NIH2015Sign>{{cite web|title=What Are the Signs and Symptoms of Sickle Cell Disease?|url=http://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs|website=National Heart, Lung, and Blood Institute|accessdate=8 March 2016|date=June 12, 2015}}</ref>。當患者年紀稍長之後可能會出現[[慢性疼痛]]<!-- <ref name=NIH2015What/> -->。在[[已開發國家]]中的患者平均壽命為40到60歲<ref name=NIH2015What/>。
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+ Sickle-cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent.[3] Several subtypes exist, depending on the exact mutation in each haemoglobin gene.[1] An attack can be set off by temperature changes, stress, dehydration, and high altitude.[2] A person with a single abnormal copy does not usually have symptoms and is said to have sickle-cell trait.[3] Such people are also referred to as carriers.[4] Diagnosis is by a blood test and some countries test all babies at birth for the disease. Diagnosis is also possible during pregnancy.[5]
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+ 鐮刀行紅血球疾病通常發病於擁有兩個不正常血紅素基因的人，從父母雙方個遺傳果來一個不正常的基因<ref name=NIH2015Caus>{{cite web|title=What Causes Sickle Cell Disease?|url=http://www.nhlbi.nih.gov/health/health-topics/topics/sca/causes|website=National Heart, Lung, and Blood Institute|accessdate=8 March 2016|date=June 12, 2015}}</ref>。突變的血紅素基因存在許多亞型，取決於其基因的[[突變區域]]<ref name=NIH2015What/>。當溫度改變，承受壓力，[[脫水]]或是處於高海拔時會出現身體不適的緊急症狀<ref name=NIH2015Sign/>。如果只有一個不正常基因的人通常不會有[[鐮狀細胞的特徵]]<ref name=NIH2015Caus/>。這類型的人通常被視為[[基因帶原者]]<ref name=WHO2011>{{cite web|title=Sickle-cell disease and other haemoglobin disorders Fact sheet N°308|url=http://www.who.int/mediacentre/factsheets/fs308/en/|accessdate=8 March 2016|date=January 2011}}</ref> 。檢驗是否有鐮刀行紅血球疾病通常是藉由[[血液檢查]]得知，有些國家在新生兒出生之後便會進行檢驗<!-- <ref name=NIH2015Diag/> --> ，在懷孕時也有機會可以驗出胎兒是否有鐮刀型紅血球疾病<ref name=NIH2015Diag>{{cite web|title=How Is Sickle Cell Disease Diagnosed?|url=http://www.nhlbi.nih.gov/health/health-topics/topics/sca/diagnosis|website=National Heart, Lung, and Blood Institute|accessdate=8 March 2016|date=June 12, 2015}}</ref>。
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+ The care of people with sickle-cell disease may include infection prevention with vaccination and antibiotics, high fluid intake, folic acid supplementation, and pain medication.[4][6] Other measures may include blood transfusion, and the medication hydroxycarbamide (hydroxyurea).[6] A small proportion of people can be cured by a transplant of bone marrow cells.[1]
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+ 照護鐮刀型紅血球疾病患者的方式包含[[疫苗]]和[[抗生素]]之使用、多喝水、補充[[葉酸]]以及[[止痛劑]]<ref name=WHO2011/><ref name=NIH2015Tx/>。其他方法包括[[輸血]]和[[羥基脲藥物]]<ref name=NIH2015Tx>{{cite web|title=How Is Sickle Cell Disease Treated?|url=http://www.nhlbi.nih.gov/health/health-topics/topics/sca/treatment|website=National Heart, Lung, and Blood Institute|accessdate=8 March 2016|date=June 12, 2015}}</ref>。一小部分的人可以利用[[骨髓細胞移植]]來進行治療<ref name=NIH2015What/>。
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+ As of 2013 about 3.2 million people have sickle-cell disease while an additional 43 million have sickle-cell trait.[7]About 80% of sickle-cell disease cases are believed to occur in sub-Saharan Africa.[8] It also occurs relatively frequently in parts of India, the Arabian peninsula, and among people of African origin living in other parts of the world.[9] In 2013, it resulted in 176,000 deaths, up from 113,000 deaths in 1990.[10] The condition was first described in the medical literature by the American physician James B. Herrick in 1910.[11][12] In 1949 the genetic transmission was determined by E. A. Beet and J. V. Neel. In 1954 the protective effect against malaria of sickle-cell trait was described.[12]
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+ 2013年之前，全球約有320萬人患有鐮型紅血球疾病；另外約有4300萬人具有鐮型紅血球疾病表徵<ref>{{cite journal|last1=Global Burden of Disease Study 2013|first1=Collaborators|title=Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.|journal=Lancet (London, England)|date=22 August 2015|volume=386|issue=9995|pages=743–800|pmid=26063472|doi=10.1016/s0140-6736(15)60692-4}}</ref>。據信大約80%的鐮型紅血球疾病病例出現在[[撒哈拉沙漠以南的非洲]]<ref>{{cite journal|last1=Rees|first1=DC|last2=Williams|first2=TN|last3=Gladwin|first3=MT|title=Sickle-cell disease.|journal=Lancet (London, England)|date=11 December 2010|volume=376|issue=9757|pages=2018–31|pmid=21131035|doi=10.1016/s0140-6736(10)61029-x}}</ref>。此外，印度部分區域、阿拉伯半島以及世界各地的[[非裔地區]]也是經常有病例出現的地方<ref>{{cite book|last1=Elzouki|first1=Abdelaziz Y.|title=Textbook of clinical pediatrics|date=2012|publisher=Springer|location=Berlin|isbn=9783642022012|page=2950|edition=2|url=https://books.google.ca/books?id=FEf4EMjYSrgC&pg=PA2950}}</ref>。在1990年，此疾病造成11萬3千人死亡，到了2013，此疾病已經造成17萬6千的人口死亡<ref name=GDB2013>{{cite journal|last1=GBD 2013 Mortality and Causes of Death|first1=Collaborators|title=Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.|journal=Lancet|date=17 December 2014|pmid=25530442|doi=10.1016/S0140-6736(14)61682-2|pmc=4340604|volume=385|pages=117–171}}</ref> 。此疾病最初是記載在1910年美國醫師[[詹姆斯·赫里克]]所寫的醫學文獻<ref name=Savitt1989>{{cite journal |vauthors=Savitt TL, Goldberg MF | title = Herrick's 1910 case report of sickle cell anemia. The rest of the story | journal = JAMA | volume = 261 | issue = 2 | pages = 266–71 | date = Jan 1989 | pmid = 2642320 | doi = 10.1001/jama.261.2.266 }}</ref><ref name=Serjeant2010/> 。1949年，此病的遺傳現象被E. A. Beet和J. V. Neel所確認<!-- <ref name=Serjeant2010/> --> 。在1954年，鐮型紅血球疾病表
+ 徵有能力對瘧疾產生抵抗性的效果已有相關記載論述<ref name=Serjeant2010>{{cite journal | author = Serjeant GR | title = One hundred years of sickle cell disease. | journal = British journal of haematology | volume = 151 | issue = 5 | pages = 425–9 | date = Dec 2010 | pmid = 20955412 | doi
+ = 10.1111/j.1365-2141.2010.08419.x | url = http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2010.08419.x/full }}</ref>。
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+ *1. "What Is Sickle Cell Disease?". National Heart, Lung, and Blood Institute. June 12, 2015. Retrieved 8 March 2016.
+ *2. "What Are the Signs and Symptoms of Sickle Cell Disease?". National Heart, Lung, and Blood Institute. June 12, 2015. Retrieved 8 March 2016.
+ *3. "What Causes Sickle Cell Disease?". National Heart, Lung, and Blood Institute. June 12, 2015. Retrieved 8 March 2016.
+ *4. "Sickle-cell disease and other haemoglobin disorders Fact sheet N°308". January 2011. Retrieved 8 March 2016.
+ *5. "How Is Sickle Cell Disease Diagnosed?". National Heart, Lung, and Blood Institute. June 12, 2015. Retrieved 8 March 2016.
+ *6."How Is Sickle Cell Disease Treated?". National Heart, Lung, and Blood Institute. June 12, 2015. Retrieved 8 March 2016.
+ *7. Global Burden of Disease Study 2013, Collaborators (22 August 2015). "Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.". Lancet (London, England). 386 (9995): 743–800. doi:10.1016/s0140-6736(15)60692-4. PMID 26063472.
+ *8. Rees, DC; Williams, TN; Gladwin, MT (11 December 2010). "Sickle-cell disease.". Lancet (London, England). 376 (9757): 2018–31. doi:10.1016/s0140-6736(10)61029-x. PMID 21131035.
+ *9. Elzouki, Abdelaziz Y. (2012). Textbook of clinical pediatrics (2 ed.). Berlin: Springer. p. 2950. ISBN 9783642022012.
+ *10.GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). "Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.". Lancet. 385: 117–171. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442.
+ *11. Savitt TL, Goldberg MF (Jan 1989). "Herrick's 1910 case report of sickle cell anemia. The rest of the story". JAMA. 261 (2): 266–71. doi:10.1001/jama.261.2.266. PMID 2642320.
+ *12. Serjeant GR (Dec 2010). "One hundred years of sickle cell disease.". British journal of haematology. 151 (5): 425–9. doi:10.1111/j.1365-2141.2010.08419.x. PMID 20955412.
+ 2016.1.19整合至維基百科
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