地中海贫血

定义

一种由遗传性常染色体隐性突变引起的疾病，导致血红蛋白的异常产生。本病特点是红细胞被破坏，导致贫血和血红蛋白的异常产生。这种疾病可表现为脸色苍白、黄疸、铁超载、疲劳或呼吸急促通过识别基因检测突变确诊。

A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.

子条目 共 7 条

• 3A50.0α地中海贫血6
• 3A50.1α地中海贫血相关综合征
• 3A50.2β地中海贫血
• 3A50.3δ，δ-β或γ-δ-β地中海贫血
• 3A50.4遗传性持续性胎儿血红蛋白症
• 3A50.Y其他特指的地中海贫血
• 3A50.Z未特指的地中海贫血