Advances in Hemoglobinopathies and Thalassemia Evaluation.

Humans Hemoglobinopathies / diagnosis Thalassemia / diagnosis
Capillary electrophoresis Hemoglobinopathy High-performance liquid chromatography Next-generation sequencing Sequencing Thalassemia

Journal

Clinics in laboratory medicine
ISSN: 1557-9832
Titre abrégé: Clin Lab Med
Pays: United States
ID NLM: 8100174

Informations de publication

Date de publication:
Sep 2024
Historique:
medline: 2 8 2024
pubmed: 2 8 2024
entrez: 1 8 2024
Statut: ppublish

Résumé

Hemoglobin (Hb) disorders are among the most prevalent inherited diseases. Despite a limited number of involved genes, these conditions represent a broad clinical and prognostic spectrum. The menu of laboratory tests is extensive. From widely available modalities, for example, complete blood count to rather sophisticated molecular technologies, the investigation of Hb disorders recapitulates an increasing complexity of laboratory workup in other medical fields. This review highlights a current state of biochemical and molecular investigation of Hb disorders and offers a glimpse on technologies that are yet to be fully embraced in clinical practice.

Identifiants

DOI: 10.1016/j.cll.2024.04.006 PMID: 39089750
pubmed: 39089750
pii: S0272-2712(24)00017-9
doi: 10.1016/j.cll.2024.04.006
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

441-453

Informations de copyright

Copyright © 2024 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Disclosure The authors have nothing to disclose.

Auteurs

Archana M Agarwal (AM)

Department of Pathology, University of Utah Health and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA. Electronic address: archana.agarwal@hsc.utah.edu.

Anton V Rets (AV)

Department of Pathology, University of Utah Health and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Advances in Hemoglobinopathies and Thalassemia...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Advances in Hemoglobinopathies and Thalassemia...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › Advances in Hemoglobinopathies and Thalassemia...