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Alpha-thalassemia

Última revisión: 23 Sep 2025
Última actualización: 19 Aug 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • symptoms of anemia
  • splenomegaly
Todos los datos

Otros factores de diagnóstico

  • 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
Todos los datos

Factores de riesgo

  • ethnicity from a geographic malarial area
  • positive family history
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

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

Pruebas diagnósticas que deben considerarse

  • 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
Todos los datos

Algoritmo de tratamiento

Agudo

acute hemolytic episodes: pregnant or nonpregnant

transient aplastic crisis: pregnant or nonpregnant

En curso

nonpregnant

pregnant

Colaboradores

Autores

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

Divulgaciones

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, NovoNordisk, Chiesi, Biomarin, Regeneron, Vertex, and Bristol Myers Squibb (Celgene).

Agradecimientos

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

Divulgaciones

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.

Revisores por pares

David H. K. Chui, MD, FRCPC

Professor of Medicine

Boston University School of Medicine

Boston

MA

Divulgaciones

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

Divulgaciones

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

Divulgaciones

CH declares that he has no competing interests.

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Referencias

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Artículos principales

Thalassaemia International Federation. Guidelines for the management of alpha-thalassaemia (2023). 2023 [internet publication].Texto completo

Northern California Comprehensive Thalassemia Center. Standards of care guidelines for thalassemia. 2012 [internet publication].Texto completo

Artículos de referencia

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