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α和β地中海贫血

Alpha and beta thalassemia.

作者信息

Muncie Herbert L, Campbell James

机构信息

Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA.

出版信息

Am Fam Physician. 2009 Aug 15;80(4):339-44.

Abstract

The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy. Affected children will require regular lifelong blood transfusions. Beta thalassemia intermedia is less severe than beta thalassemia major and may require episodic blood transfusions. Transfusion-dependent patients will develop iron overload and require chelation therapy to remove the excess iron. Bone marrow transplants can be curative for some children with beta thalassemia major. Persons with thalassemia should be referred for preconception genetic counseling, and persons with alpha thalassemia trait should consider chorionic villus sampling to diagnose infants with hemoglobin Bart's, which increases the risk of toxemia and postpartum bleeding. Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.

摘要

地中海贫血是一组遗传性血液系统疾病,由一种或多种血红蛋白链合成缺陷引起。α地中海贫血是由于α珠蛋白链合成减少或缺乏所致,β地中海贫血是由于β珠蛋白链合成减少或缺乏所致。珠蛋白链失衡导致溶血并损害红细胞生成。α地中海贫血的静止携带者以及具有α或β地中海贫血特征的人无症状,无需治疗。中间型α地中海贫血,即血红蛋白H病,会导致溶血性贫血。伴有血红蛋白Bart's的重型α地中海贫血通常会导致致命的胎儿水肿。重型β地中海贫血会导致婴儿期溶血性贫血、生长发育不良和骨骼异常。患病儿童需要终身定期输血。中间型β地中海贫血比重型β地中海贫血症状轻,可能需要间歇性输血。依赖输血的患者会出现铁过载,需要进行螯合疗法以清除多余的铁。骨髓移植对一些重型β地中海贫血儿童可能具有治愈作用。地中海贫血患者应在孕前接受遗传咨询,具有α地中海贫血特征的人应考虑进行绒毛取样以诊断患有血红蛋白Bart's的婴儿,这会增加毒血症和产后出血的风险。具有地中海贫血特征的人预期寿命正常。重型β地中海贫血患者通常在30岁时死于铁过载的心脏并发症。

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