最近审阅: 24 十月 2020
最近更新: 08 八月 2019

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • α-地中海贫血家族史
  • 贫血的症状
  • 脾肿大

其他诊断因素

  • 儿童期或成年早期
  • 胆结石的症状
  • 生长迟缓
  • 既往铁剂补充史
  • 黄疸
  • 轻度面部畸形的临床特征
  • 骨髓外造血

危险因素

  • 来源于疟疾高发区的种族群体
  • 阳性家族史

诊断性检查

首要检查

  • 血红蛋白 (Hb)
  • 平均红细胞体积 (MCV)
  • 平均红细胞血红蛋白 (MCH)
  • RBC 计数
  • 外周血涂片
  • 网织红细胞百分比
  • 血清铁
  • 血清铁蛋白
更多 首要检查

需考虑的检查

  • 红细胞亮甲酚蓝染色法
  • 血红蛋白电泳
  • 高效液相色谱法 (HPLC) 可对 Hb 进行分析
  • 跨越断裂位点-聚合酶链反应 (gap-PCR)
  • 多重连接依赖式探针扩增 (MLPA)
  • 直接测序法
  • MRI(肝脏或心脏)
  • 超导量子干涉器 (SQUID)
  • 肝脏活检
更多 需考虑的检查

治疗流程

撰稿人

Director

Thalassemia Program

Children’s Hospital of Philadelphia

Professor of Pediatrics

Perelman School of Medicine

University of Pennsylvania

Philadelphia

PA

利益声明

JLK has participated in research trials of iron chelation sponsored by Novartis and ApoPharma, and has consulted for Ionis Pharmaceuticals, bluebird bio, Agios, and Celgene.

Dr Janet L. Kwiatkowski would like to gratefully acknowledge Dr Elizabeth A. Price and Dr Stanley L. Schrier, the previous contributors to this topic.

利益声明

EAP declares that she has no competing interests. SLS has received NIH research funds, has received funds for organizing an educational symposium, and is an author of a number of references cited in this topic.

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Professor of Medicine

Boston University School of Medicine

Boston

MA

利益声明

DHKC is an author of a number of references cited in this topic. He has received research grants or salary from the US National Institutes of Health greater than 6 figures USD.

Professor of Clinical Biochemical Molecular Genetics

Human and Clinical Genetics Department

Leiden University Medical Center

Leiden

The Netherlands

利益声明

PG declares that he has no competing interests.

Clinical Molecular and Biochemical Geneticist

Department of Clinical Genetics

Leiden University Medical Center

Leiden

The Netherlands

利益声明

CH declares that he has no competing interests.

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