Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- symptoms of anemia
- splenomegaly
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
Factores de riesgo
- ethnicity from a geographic malarial area
- positive family history
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
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
Algoritmo de tratamiento
acute hemolytic episodes: pregnant or nonpregnant
transient aplastic crisis: pregnant or nonpregnant
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.
Agradecimiento de los revisores por pares
Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.
Divulgaciones
Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.
Referencias
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
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Iron-deficiency anemia
- Beta-thalassemia
- Variant hemoglobins (Hb E, Hb Lepore)
Más DiferencialesGuías de práctica clínica
- Guidelines for the management of alpha-thalassaemia (2023)
- Hemoglobinopathies in pregnancy: practice advisory
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