Beta-thalassaemia
Resumo
Definição
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
Divulgaciones
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
Divulgaciones
MRJ declares that he has no competing interests.
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Divulgaciones
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Referencias
Artículos principales
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.Texto completo Resumen
Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Texto completo
Sharma A, Easow Mathew M, Puri L. Splenectomy for people with thalassaemia major or intermedia. Cochrane Database Syst Rev. 2019 Sep 17;9:CD010517.Texto completo Resumen
Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Texto completo
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Congenital dyserythropoietic anaemia (CDA)
- Pyruvate kinase (PK) deficiency
- Mild iron deficiency anaemia
Más DiferencialesGuías de práctica clínica
- Significant haemoglobinopathies: a guideline for screening and diagnosis
- Carrier screening for genetic conditions
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