Beta-thalassaemia
Resumo
Definition
História e exame físico
Principais fatores diagnósticos
- country of origin or ancestry
- family history
- asymptomatic
Outros fatores diagnósticos
- lethargy
- abdominal distension
- failure to gain weight
- low height and weight
- pallor
- spinal changes
- large head
- chipmunk facies
- misaligned teeth
- hepatosplenomegaly
- jaundice
Fatores de risco
- positive family history
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- FBC
- peripheral smear
- reticulocyte count
- haemoglobin analysis
- LFTs
- plain x-rays of skull
- abdominal ultrasonography
- plain x-rays of long bones
Investigações a serem consideradas
- genetic testing
- HLA typing
Algoritmo de tratamento
beta-thalassaemia trait
beta-thalassaemia intermedia: non-transfusion-dependent
beta-thalassaemia intermedia: transfusion-dependent
beta-thalassaemia major
Colaboradores
Autores
Sujit Sheth, MD
Professor of Clinical Pediatrics
Weill-Cornell Medical College
New York
NY
Declarações
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.
Revisores
Christoph Pechlaner, MD
Associate Professor of Medicine
Innsbruck Medical University
Innsbruck
Austria
Declarações
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
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.Full text Abstract
Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Full text
Sharma A, Easow Mathew M, Puri L. Splenectomy for people with thalassaemia major or intermedia. Cochrane Database Syst Rev. 2019 Sep 17;9:CD010517.Full text Abstract
Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Full text
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 anaemia (CDA)
- Pyruvate kinase (PK) deficiency
- Mild iron deficiency anaemia
More DifferentialsGuidelines
- Significant haemoglobinopathies: a guideline for screening and diagnosis
- Carrier screening for genetic conditions
More Guidelines
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