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Talassemia alfa

Last reviewed: 11 Jun 2025
Last updated: 30 Nov 2023

Summary

Definition

History and exam

Key diagnostic factors

  • presença de fatores de risco
  • sintomas de anemia
  • esplenomegalia
Full details

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
Full details

Risk factors

  • etnia de uma região geográfica com incidência de malária
  • história familiar positiva
Full details

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
Full details

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
Full details

Treatment algorithm

ACUTE

episódios hemolíticos agudos: gestante ou não gestante

crise aplástica transitória: gestante ou não gestante

ONGOING

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

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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.
  • Talassemia alfa images
  • Differentials

    • Anemia ferropriva
    • Talassemia beta
    • Hemoglobinas variantes (Hb E, Hb Lepore)
    More Differentials
  • Guidelines

    • Hemoglobinopathies in pregnancy: practice advisory
    • Consensus statement for the perinatal management of patients with alpha-thalassemia major
    More Guidelines
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