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血液和肿瘤病

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地中海贫血(Thalassemia)
原作者: Walid Hammad,肖锋译 发布日期:2013-03-28

Title: Thalassemia
题目:地中海贫血
Author 作者: Walid Hammad

-A genetic autosomal recessive blood disorders that result from a defect in either the alpha (α) or Beta (β) globin chain in the hemoglobin molecule.
是一个由常染色体隐性遗传造成的在血红蛋白分子球蛋白α 或β链上的缺陷的血液病
-Most common in people from a Mediterranean origin.
在地中海人群中最常见
-Three types depending on the affected globin chain, α, β, or Delta (δ)
根据受影响的球蛋白链不同(α, β, δ), 可分成3种
-Presents as hemolytic anemia with hepato-splenomegaly.
表现为伴有肝脾肿大的溶血性贫血
-Can present as mild anemia and may be misdiagnosed as iron deficiency anemia.
有时会表现为轻度贫血,容易误诊为缺铁性贫血
-Diagnosis is made through studies such as bone marrow examination, hemoglobin electrophoresis, and iron studies.
诊断主要是通过骨髓活检,血红蛋白电泳,血清铁检查
-The disease can cause hemochromatosis, which may be worsened by repeated blood transfusions.
可导致血色素沉着症,反复输血可以使病情恶化
-Hemochromatosis damages multiple organs including the Liver, spleen, endocrine glands and the heart causing cardiomyopathy and consequently heart failure.
血色素沉着症造成多脏器损伤,包括肝脏,脾脏,内分泌腺,和心脏(导致心机肥厚和心力衰竭
-Severe thalassemia usually requires blood transfusion on regular basis (first measure effective in prolonging life)
严重的地中海贫血通常需要有规律的输血(延长生命的首要办法)
-Treatment of trait cases is symptomatic with analgesics, anti-inflammatory  (steroids or NSAIDs)
对于轻型的病人主要使对症治疗,止痛,消炎(激素或非激素类抗炎药)
-The introduction of chelating agents capable of removing excessive iron from the body has dramatically increased life expectancy.
能够从体内排出多于铁的螯合剂的应用明显延长了生命
-Deferasirox (Exjade) was approved by the FDA in January 2013 for treatment of chronic iron overload caused by nontransfusion-dependent thalassemia.
地拉罗斯(恩瑞格)在2013年1月被美国FDA批准可以用来治疗地中海贫血病人中非输血性慢性铁超负荷的治疗
References 参考文献
Delvecchio M, Cavallo L. Growth and endocrine function in thalassemia major in childhood and adolescence. J Endocrinol Invest. Jan 2010;33(1):61-68
Claude Owen Burdick. "Separating Thalassemia Trait and Iron Deficiency by Simple Inspection". American Society for Clinical Pathology.
http://ajcp.ascpjournals.org/content/131/3/444.short