Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- sintomas de anemia
- esplenomegalia
Other diagnostic factors
- infância ou início da vida adulta
- história familiar de talassemia alfa
- sintomas de cálculos biliares
- retardo de crescimento
- história prévia de suplementação de ferro
- icterícia
- aspectos faciais dismórficos leves
- hematopoese extramedular
Risk factors
- etnia de uma região geográfica com incidência de malária
- história familiar positiva
Diagnostic tests
1st tests to order
- hemoglobina (Hb)
- volume corpuscular médio (VCM)
- hemoglobina corpuscular média (HCM)
- contagem de eritrócitos
- esfregaço de sangue periférico
- percentual de reticulócitos
- ferro sérico
- ferritina sérica
Tests to consider
- coloração de azul de cresil brilhante dos eritrócitos
- eletroforese de Hb
- fracionamento da Hb por cromatografia líquida de alta eficiência (HPLC)
- reação em cadeia da polimerase (gap-PCR)
- amplificação de múltiplas sondas dependentes de ligação
- sequenciamento direto/dot-blot reverso
- ressonância nuclear magnética (RNM) (hepática ou cardíaca)
- dispositivos supercondutores de interferência quântica (SQUID)
- biópsia hepática
Treatment algorithm
episódios hemolíticos agudos: gestante ou não gestante
crise aplástica transitória: gestante ou não gestante
não gestante
gestante
Contributors
Authors
Janet L. Kwiatkowski, MD, MSCE
Director
Thalassemia Program
Children’s Hospital of Philadelphia
Professor of Pediatrics
Perelman School of Medicine
University of Pennsylvania
Philadelphia
PA
Disclosures
JLK has participated in research trials of gene therapy sponsored by bluebird bio, Sangamo, Vertex, and Editas, and has participated in studies of pyruvate kinase activators sponsored by Agios and Forma Therapeutics. She has consulted for Agios, Forma, Chiesi, Biomarin, Regeneron, and Bristol Myers Squibb (Celgene).
Acknowledgements
Dr Janet L. Kwiatkowski would like to gratefully acknowledge Dr Elizabeth A. Price and Dr Stanley L. Schrier, the previous contributors to this topic.
Disclosures
EAP declares that she has no competing interests. SLS has received US National Institutes of Health (NIH) research funds, has received funds for organising an educational symposium, and is an author of a number of references cited in this topic.
Peer reviewers
David H. K. Chui, MD, FRCPC
Professor of Medicine
Boston University School of Medicine
Boston
MA
Disclosures
DHKC is an author of a number of references cited in this topic. He has received research grants or salary from the US National Institutes of Health greater than 6 figures USD.
Piero Giordano, PhD
Professor of Clinical Biochemical Molecular Genetics
Human and Clinical Genetics Department
Leiden University Medical Center
Leiden
The Netherlands
Disclosures
PG declares that he has no competing interests.
Cornelis Harteveld, PhD
Clinical Molecular and Biochemical Geneticist
Department of Clinical Genetics
Leiden University Medical Center
Leiden
The Netherlands
Disclosures
CH declares that he has no competing interests.
References
Key articles
Northern California Comprehensive Thalassemia Center. Standards of care guidelines for thalassemia. 2012 [internet publication].Full text
Thalassaemia International Federation. 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
- Anemia ferropriva
- Talassemia beta
- Hemoglobinas variantes (Hb E, Hb Lepore)
More DifferentialsGuidelines
- Hemoglobinopathies in pregnancy: practice advisory
- Consensus statement for the perinatal management of patients with alpha-thalassemia major
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