小结
定义
病史和体格检查
关键诊断因素
- country of origin or ancestry
- family history
- asymptomatic
其他诊断因素
- lethargy
- abdominal distension
- failure to gain weight
- low height and weight
- pallor
- spinal changes
- large head
- chipmunk facies
- misaligned teeth
- hepatosplenomegaly
- jaundice
危险因素
- positive family history
诊断性检查
首要检查
- CBC
- peripheral smear
- reticulocyte count
- hemoglobin analysis
- LFTs
- plain x-rays of skull
- abdominal ultrasonography
- plain x-rays of long bones
需考虑的检查
- genetic testing
- HLA typing
治疗流程
beta-thalassemia trait
beta-thalassemia intermedia: non-transfusion-dependent
beta-thalassemia intermedia: transfusion-dependent
beta-thalassemia major
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-thalassemia; and for Agios, related to mitapivat for thalassemia. Steering committee member for CTX001, gene editing product by CRISPR/Vertex. Participation in multicenter 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
Disclosures
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
Disclosures
MRJ declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Full text
Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Full text
Karimi M, Cohan N, De Sanctis V, et al. Guidelines for diagnosis and management of beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014 Oct;31(7):583-96. Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Congenital dyserythropoietic anemia (CDA)
- Pyruvate kinase (PK) deficiency
- Mild iron deficiency anemia
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