Summary
Definition
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
- FBC
- peripheral smear
- reticulocyte count
- haemoglobin 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-thalassaemia trait
beta-thalassaemia intermedia: non-transfusion-dependent
beta-thalassaemia intermedia: transfusion-dependent
beta-thalassaemia 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-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.
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.
参考文献
关键文献
Bain BJ, Daniel Y, Henthorn J, et al. Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology guideline. Br J Haematol. 2023 Jun;201(6):1047-65.全文 摘要
Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].全文
Sharma A, Easow Mathew M, Puri L. Splenectomy for people with thalassaemia major or intermedia. Cochrane Database Syst Rev. 2019 Sep 17;9:CD010517.全文 摘要
Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].全文
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
鉴别诊断
- Congenital dyserythropoietic anaemia (CDA)
- Pyruvate kinase (PK) deficiency
- Mild iron deficiency anaemia
更多 鉴别诊断指南
- Significant haemoglobinopathies: a guideline for screening and diagnosis
- Carrier screening for genetic conditions
更多 指南
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