最后审阅: 1 七月 2021
最后更新: 30 三月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 来源国家或血统
  • 家族史
  • 无症状

其他诊断因素

  • 昏睡
  • 腹胀
  • 无法增加体重
  • 身高和体重偏低
  • 苍白
  • 脊柱变化
  • 大头
  • 花栗鼠面容
  • 牙齿错位
  • 肝脾肿大
  • 黄疸

诊断性检查

首要检查

  • 全血细胞计数 (FBC)
  • 外周血涂片
  • 网织红细胞计数
  • 血红蛋白分析
  • 肝功能检查 (LFT)
  • 颅骨 X 线平片
  • 腹部超声检查
  • 长骨 X 线平片检查

治疗流程

撰稿人

作者

Sujit Sheth, MD

Professor of Clinical Pediatrics

Weill-Cornell Medical College

New York

NY

利益声明

SS is a consultant for Bristol Myers Squibb (formerly Celgene), manufacturer of luspatercept; for Bluebirdbio, developer of a gene therapy product for transfusion dependent beta-thalassaemia; and for Agios, related to mitapivat for thalassaemia. Steering committee member for CTX001, gene editing product by CRISPR/Vertex. Participation in multicentre trials conducted by LaJolla, Bristol Myers Squibb, Terumo, Novartis, Dispersol. SS is also an author of references cited in this topic.

同行评议者

Christoph Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

利益声明

CP declares that he has no competing interests.

Michael R. Jeng, MD

Associate Professor

Pediatric Hematology & Oncology

Stanford University School of Medicine

Palo Alto

CA

利益声明

MRJ declares that he has no competing interests.

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