什麼是地中海型貧血？
地中海型貧血(thalassemia)好發於地中海沿岸、東南亞、中國大陸長江以南，和台灣地區。本省民眾大約有4﹪為甲型地中海型貧血的帶因者，2%為乙型地中海型貧血帶因者。正常的血紅素分子是由兩條α和兩條β血紅蛋白鏈結合而成，因此可分為甲型（α型）和乙型（β型）地中海型貧血。甲型地中海型貧血是指α鏈有問題，而β鏈正常；而乙型地中海型貧血是指β鏈有問題，而α鏈正常。其病因主要是血紅素的血紅蛋白鏈製造不足或完全缺失所致，而使得紅血球體積較小、血球容易破裂，因而縮短紅血球壽命。
地中海型貧血會遺傳哦！！此症屬於隱性遺傳的血液疾病，若夫妻為同型地中海型貧血的帶因者，每次懷孕，其子女有1/4的機會為重型地中海型貧血患者，1/2的機會為帶因者，1/4的機會為正常。胎兒如罹患重症甲型地中海型貧血，在子宮內即會出現肝脾腫大、腹水、全身水腫的「胎兒水 腫」，甚至胎死腹中，或是出生後不久即缺氧死亡。如胎兒罹患重型乙型地中海型貧血，在子宮內毫無任何異樣，通常在產後3-6個月大時才會被發現。罹患地中海型貧血的小孩，最後只有靠長期輸血來維持生命，或成功的骨髓移植治療。乙型地中海型貧血在產前很難確定診斷，確實帶給產科醫師與父母莫大的壓力與困擾。
地中海型貧血患者的孕前諮詢:
女性如患有重型地中海型貧血則不易受孕，即使懷孕，對母體以及胎兒的健康威脅極大，所以不適合懷孕。若真的想要懷孕，應該在婚前、孕前、或懷孕初期實施地中海型貧血篩檢，以血液學檢查平均紅血球體積MCV及MCH值。如果從前生過重型地中海型貧血的病嬰，則應該於下一次懷孕前，先確定夫妻兩人的基因型，以為下胎的產前診斷作準備。
地中海型貧血患者的產前診斷原則
1.孕婦平均紅血球體積較小者（MCV＜80或MCH＜25），其配偶亦須接受檢查。若配偶MCV＞80或MCH＞25，則夫妻必須同時進一步抽血檢驗，以確定是屬於甲型或乙型帶因者。
2.假如夫妻為同型帶因者，則孕婦必須接受絨毛膜取樣、羊膜穿刺或胎兒採血等產前檢查， 以便進一步確定胎兒是否罹患地中海型貧血。
資料來源:http://www.cgmh.com.tw/heal/journal/journal.htm" target="_blank">長庚醫院婦產科
2008年10月12日 星期日
地中海型貧血患者，平時強化免疫力 ，婚前記得先篩檢
地中海型貧血患者，生活上有些注意事項，台北醫學大學附設醫院血液腫瘤科主任戴承正醫師指出，患者平時應注意維持免疫能力，接種疫苗、避免接觸感染源 。
同時要小心未癒合的傷口，尤其是腳部。一旦受傷要保持溫暖，疼痛處給予熱敷。此外，要注意胸痛、腹痛或嘔吐、骨關節疼痛、血尿或混濁尿、不明原因昏倒等。中、重度的患者在搭飛機時，宜使用氧氣。服藥需遵從醫囑，患者不能服用含阿斯匹靈 （Aspirin）類的藥物。(注意：看一下你用的普拿疼其成分有無Aspirin成份，若有請勿用。)
輕度地中海型貧血帶原者毋需治療，但因為是遺傳性貧血疾病，熱戀男女一旦考慮結婚生子，最好先接受婚前篩檢，以免造成遺憾。
參考網頁http://health.chinatimes.com/contents.aspx?cid=5,66&id=1995
同時要小心未癒合的傷口，尤其是腳部。一旦受傷要保持溫暖，疼痛處給予熱敷。此外，要注意胸痛、腹痛或嘔吐、骨關節疼痛、血尿或混濁尿、不明原因昏倒等。中、重度的患者在搭飛機時，宜使用氧氣。服藥需遵從醫囑，患者不能服用含阿斯匹靈 （Aspirin）類的藥物。(注意：看一下你用的普拿疼其成分有無Aspirin成份，若有請勿用。)
輕度地中海型貧血帶原者毋需治療，但因為是遺傳性貧血疾病，熱戀男女一旦考慮結婚生子，最好先接受婚前篩檢，以免造成遺憾。
參考網頁http://health.chinatimes.com/contents.aspx?cid=5,66&id=1995
Von willebrand's disease
稱之類血友病(凝血因子缺乏)
Inleiding
Blood is the red coloured fluid found in the body, it can be divided into two parts - blood cells and fluid (also called plasma). There are three types of blood cells - red blood cells (RBCs), white blood cells (WBCs), and platelets. RBCs give blood its red colour, and are responsible for caring oxygen to the tissues. WBCs consist of a number of different types of cells that are responsible for fighting infection, while platelets are essential in stopping bleeding by helping form blocks, called clots, at the site of bleeding.
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What is on Willebrands disease?
Von Willebrand's disease is a bleeding disorder that runs in families (i.e. an inherited disorder) and is characterised by excessive bleeding. It is the most common inherited bleeding disorder. The bleeding may follow trauma, or may occur spontaneously in those with the disorder.
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What causes von Willebrands disease?
The plasma contains proteins and other substances that have a variety of functions. A group of these proteins, called factors, are responsible for stopping bleeding at a site of injury. These factors are collectively called the clotting system. These factors, along with platelets, form a clot at the site of bleeding. They also prevent spontaneous bleeding from occurring.
Von Willebrand's disease is caused by a deficiency of one of these factors, called von Willebrand's factor. Von Willebrand's factor is a protein that helps platelets to stick to the blood vessel wall and to each other. Von Willebrand's factor also helps transport another factor, called factor VIII (factor "eight"). Hence, a deficiency of von Willebrand's factor may also be associated with decreased blood levels of factor VIII.
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What are the features of von Willebrands disease?
Von Willebrand's disease is equally common in men and women. The severity of symptoms is very variable between affected individuals. Some people will have severe and frequent bleeding, while others will have only mild bleeding. Von Willebrand's disease is characterized by excessive bleeding, either following trauma, or occurring spontaneously. Bleeding into the skin, giving rise to tiny pinpoint bleeds of purplish discolouration (petechiae), or larger areas of discolouration (ecchymoses) may be seen. Bleeding from the nose and gums, excessive menstrual bleeding, and bleeding into urine and stool, may also occur. Prolonged bleeding is also seen with surgery, and tooth extractions.
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How is von Willebrands disease diagnosed?
In patients with suspected von Willebrand's disease, blood tests (activated partial thromboplastin time (APTT), prothrombin time (PT), bleeding time, fibrinogen level) are done. Bleeding time will be prolonged (increased), while the other tests will be normal in von Willebrand's disease. If this is the case, blood tests for the presence, or absence, of specific factors are done. In cases where there is an associated decrease in factor VIII levels, partial thromboplastin time will be prolonged (increased).
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How is von Willebrands disease treated?
The treatment of von Willebrand's disease varies with the severity of the disease. Patients with mild von Willebrand's disease may be treated with medications such as desmopressin (DDAVP), which stimulates the body to release more clotting factors. Patients with severe bleeding are treated with transfusions of von Willebrand factor and/or factor VIII. Repeat transfusions may be required.
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What are the complications of von Willebrands disease?
Complications may be due to the disease itself, or may arise due to treatment. A person with von Willebrand's disease may develop bleeding while undergoing surgery, or after surgery, despite adequate precautions. While all blood products are carefully screened, there still remains a very small risk of transmission of infections. It is best to discuss this with your doctor.
--------------------------------------------------------------------
What can I do to help myself?
Most people with von Willebrand's disease live an active and productive life, with current treatment regimens. Transfusions may be helpful in preventing bleeding episodes. In case of cuts, put pressure on the wound with an ice pack.
Receiving vaccinations against blood-borne diseases (eg. Hepatitis B) is important. Preferably, a bracelet should be worn stating the condition, and the factor that is deficient. This may prove invaluable in an emergency.
Always avoid aspirin, as aspirin predisposes to bleeding.
--------------------------------------------------------------------
Referenties
Mackie, M.J., Ludlam, C.A. & Haynes, A.P. 1999, "Diseases of the blood", in Davidson's Principles and Practice of Medicine, eds C. Haslett, E.R.E. Chilvers, J.A.A. Hunter, & N.A. Boon, 18th edn, Churchill, Livingstone, London.
Von Willebrand's disease, 2001 [Online] Available: http://www.nlm.nih.gov/medlineplus/ency/article/000544.htm [2001, Aug. 01].
Inleiding
Blood is the red coloured fluid found in the body, it can be divided into two parts - blood cells and fluid (also called plasma). There are three types of blood cells - red blood cells (RBCs), white blood cells (WBCs), and platelets. RBCs give blood its red colour, and are responsible for caring oxygen to the tissues. WBCs consist of a number of different types of cells that are responsible for fighting infection, while platelets are essential in stopping bleeding by helping form blocks, called clots, at the site of bleeding.
--------------------------------------------------------------------
What is on Willebrands disease?
Von Willebrand's disease is a bleeding disorder that runs in families (i.e. an inherited disorder) and is characterised by excessive bleeding. It is the most common inherited bleeding disorder. The bleeding may follow trauma, or may occur spontaneously in those with the disorder.
-------------------------------------------------------------------
What causes von Willebrands disease?
The plasma contains proteins and other substances that have a variety of functions. A group of these proteins, called factors, are responsible for stopping bleeding at a site of injury. These factors are collectively called the clotting system. These factors, along with platelets, form a clot at the site of bleeding. They also prevent spontaneous bleeding from occurring.
Von Willebrand's disease is caused by a deficiency of one of these factors, called von Willebrand's factor. Von Willebrand's factor is a protein that helps platelets to stick to the blood vessel wall and to each other. Von Willebrand's factor also helps transport another factor, called factor VIII (factor "eight"). Hence, a deficiency of von Willebrand's factor may also be associated with decreased blood levels of factor VIII.
--------------------------------------------------------------------
What are the features of von Willebrands disease?
Von Willebrand's disease is equally common in men and women. The severity of symptoms is very variable between affected individuals. Some people will have severe and frequent bleeding, while others will have only mild bleeding. Von Willebrand's disease is characterized by excessive bleeding, either following trauma, or occurring spontaneously. Bleeding into the skin, giving rise to tiny pinpoint bleeds of purplish discolouration (petechiae), or larger areas of discolouration (ecchymoses) may be seen. Bleeding from the nose and gums, excessive menstrual bleeding, and bleeding into urine and stool, may also occur. Prolonged bleeding is also seen with surgery, and tooth extractions.
--------------------------------------------------------------------
How is von Willebrands disease diagnosed?
In patients with suspected von Willebrand's disease, blood tests (activated partial thromboplastin time (APTT), prothrombin time (PT), bleeding time, fibrinogen level) are done. Bleeding time will be prolonged (increased), while the other tests will be normal in von Willebrand's disease. If this is the case, blood tests for the presence, or absence, of specific factors are done. In cases where there is an associated decrease in factor VIII levels, partial thromboplastin time will be prolonged (increased).
--------------------------------------------------------------------
How is von Willebrands disease treated?
The treatment of von Willebrand's disease varies with the severity of the disease. Patients with mild von Willebrand's disease may be treated with medications such as desmopressin (DDAVP), which stimulates the body to release more clotting factors. Patients with severe bleeding are treated with transfusions of von Willebrand factor and/or factor VIII. Repeat transfusions may be required.
--------------------------------------------------------------------
What are the complications of von Willebrands disease?
Complications may be due to the disease itself, or may arise due to treatment. A person with von Willebrand's disease may develop bleeding while undergoing surgery, or after surgery, despite adequate precautions. While all blood products are carefully screened, there still remains a very small risk of transmission of infections. It is best to discuss this with your doctor.
--------------------------------------------------------------------
What can I do to help myself?
Most people with von Willebrand's disease live an active and productive life, with current treatment regimens. Transfusions may be helpful in preventing bleeding episodes. In case of cuts, put pressure on the wound with an ice pack.
Receiving vaccinations against blood-borne diseases (eg. Hepatitis B) is important. Preferably, a bracelet should be worn stating the condition, and the factor that is deficient. This may prove invaluable in an emergency.
Always avoid aspirin, as aspirin predisposes to bleeding.
--------------------------------------------------------------------
Referenties
Mackie, M.J., Ludlam, C.A. & Haynes, A.P. 1999, "Diseases of the blood", in Davidson's Principles and Practice of Medicine, eds C. Haslett, E.R.E. Chilvers, J.A.A. Hunter, & N.A. Boon, 18th edn, Churchill, Livingstone, London.
Von Willebrand's disease, 2001 [Online] Available: http://www.nlm.nih.gov/medlineplus/ency/article/000544.htm [2001, Aug. 01].
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