小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 贫血的症状
- 脾肿大
其他诊断因素
- 儿童期或成年早期
- α-地中海贫血家族史
- 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)
- 红细胞计数
- 外周血涂片
- 网织红细胞百分比
- 血清铁
- 血清铁蛋白
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
- 跨越断裂点聚合酶链反应（gap-PCR）
- 多重连接依赖式探针扩增
- 直接测序/反向斑点杂交法
- MRI（肝脏或心脏）
- 超导量子干涉器 (SQUID)
- 肝脏活检
治疗流程
急性溶血发作：妊娠或非妊娠
短暂性再生障碍危象：妊娠或非妊娠
非妊娠期
妊娠
撰稿人
作者
Janet L. Kwiatkowski, MD, MSCE
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 gene therapy sponsored by bluebird bio, Sangamo, Vertex, and Editas, and has participated in studies of pyruvate kinase activators sponsored by Agios and Forma Therapeutics. She has consulted for Agios, Forma, Chiesi, Biomarin, Regeneron, and Bristol Myers Squibb (Celgene).
鸣谢
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 US National Institutes of Health (NIH) research funds, has received funds for organising an educational symposium, and is an author of a number of references cited in this topic.
同行评议者
David H. K. Chui, MD, FRCPC
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.
Piero Giordano, PhD
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.
Cornelis Harteveld, PhD
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.
鉴别诊断
- 缺铁性贫血
- β地中海贫血
- 血红蛋白变异体（Hb E、Hb Lepore）
更多 鉴别诊断指南
- 妊娠期血红蛋白病：ACOG 实践咨询
- 重型 α-地中海贫血患者围产期管理共识声明
更多 指南
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