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Article

Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.

Human mutation - 1 Nov 2005

Patrinos George P, Kollia Panagoula, Papadakis Manoussos N

Abstract excerpt

Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. Over 1,200 different genetic alterations that affect the DNA sequence of the human alpha-like (HBZ, HBA2, HBA1, and HBQ1) and beta-like (HBE1, HBG2, HBG1, HBD,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16138310
DOI: 10.1002/humu.20225

Genes

HBA1
HBA2
HBB
HBD
HBE1
HBG1
HBG2
HBQ1
HBZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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