When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Beta-thalassemia

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Последний просмотренный: 13 Oct 2025
Last updated: 11 Dec 2024

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

  • country of origin or ancestry
  • family history
  • asymptomatic
Полная информация

Другие диагностические факторы

  • lethargy
  • abdominal distension
  • failure to gain weight
  • low height and weight
  • pallor
  • spinal changes
  • large head
  • chipmunk facies
  • misaligned teeth
  • hepatosplenomegaly
  • jaundice
Полная информация

Факторы риска

  • positive family history
Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

  • CBC
  • peripheral smear
  • reticulocyte count
  • hemoglobin analysis
  • LFTs
  • plain x-rays of skull
  • abdominal ultrasonography
  • plain x-rays of long bones
Полная информация

Исследования, проведение которых нужно рассмотреть

  • genetic testing
  • HLA typing
Полная информация

Алгоритм лечения

ПРОДОЛЖЕНИЕ

beta-thalassemia trait

beta-thalassemia intermedia: non-transfusion-dependent

beta-thalassemia intermedia: transfusion-dependent

beta-thalassemia major

Составители

Авторы

Sujit Sheth, MD

Professor of Clinical Pediatrics

Weill-Cornell Medical College

New York

NY

Раскрытие информации

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-thalassemia; and for Agios, related to mitapivat for thalassemia. Steering committee member for CTX001, gene editing product by CRISPR/Vertex. Participation in multicenter trials conducted by LaJolla, Bristol Myers Squibb, Terumo, Novartis, Dispersol. SS is also an author of references cited in this topic.

Рецензенты

Christoph Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Раскрытие информации

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

Раскрытие информации

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.

Список литературы

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.

Основные статьи

Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Полный текст

Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Полный текст

Karimi M, Cohan N, De Sanctis V, et al. Guidelines for diagnosis and management of beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014 Oct;31(7):583-96. Аннотация

Статьи, указанные как источники

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

  • Отличия

    • Congenital dyserythropoietic anemia (CDA)
    • Pyruvate kinase (PK) deficiency
    • Mild iron deficiency anemia
    Больше Отличия

  • Guidelines

    • Carrier screening in the age of genomic medicine
    • Carrier screening for genetic conditions
    Больше Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer