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

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。

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]

’’’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/>。

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]

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>。

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]

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/>。

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]

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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