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Alpha-thalassemia

Последний просмотренный: 18 Jun 2025
Last updated: 11 Dec 2024

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

  • symptoms of anemia
  • splenomegaly
Полная информация

Другие диагностические факторы

  • childhood or young adulthood
  • family history of alpha-thalassemia
  • symptoms of gallstones
  • growth retardation
  • history of prior iron supplementation
  • jaundice
  • mild dysmorphic facial features
  • extramedullary hematopoiesis
Полная информация

Факторы риска

  • ethnicity from a geographic malarial area
  • positive family history
Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

  • hemoglobin (Hb)
  • mean corpuscular volume (MCV)
  • mean corpuscular hemoglobin (MCH)
  • red blood cell count
  • peripheral smear
  • reticulocyte percentage
  • serum iron
  • serum ferritin
Полная информация

Исследования, проведение которых нужно рассмотреть

  • brilliant cresyl blue staining of red blood cells
  • Hb electrophoresis
  • Hb fractionation by high-performance liquid chromatography (HPLC)
  • gap-polymerase chain reaction (gap-PCR)
  • multiplex ligation-dependent probe amplification
  • direct sequencing/reverse dot blot
  • MRI (hepatic or cardiac)
  • superconducting quantum interference devices (SQUID)
  • liver biopsy
Полная информация

Алгоритм лечения

Острый

acute hemolytic episodes: pregnant or nonpregnant

transient aplastic crisis: pregnant or nonpregnant

ПРОДОЛЖЕНИЕ

nonpregnant

pregnant

Составители

Авторы

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

利益声明

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).

鸣谢

Dr Janet L. Kwiatkowski would like to gratefully acknowledge Dr Elizabeth A. Price and Dr Stanley L. Schrier, the previous contributors to this topic.

利益声明

EAP declares that she has no competing interests. SLS has received National Institutes of Health (NIH) research funds, has received funds for organizing an educational symposium, and is an author of a number of references cited in this topic.

同行评议者

David H. K. Chui, MD, FRCPC

Professor of Medicine

Boston University School of Medicine

Boston

MA

利益声明

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

利益声明

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

利益声明

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. ​2021 guidelines for the management of transfusion dependent thalassaemia (TDT). 4th ed. Version 2.01. 2021 [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.
  • Alpha-thalassemia images
  • Differentials

    • Iron-deficiency anemia
    • Beta-thalassemia
    • Variant hemoglobins (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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