Genopathy
Gene-Disorder Association · Article
Gene
HBA1
Hemoglobin Subunit Alpha 1
Disorder
Heterozygous Beta-Thalassemia Intermedia With Supernumerary Alpha-Globin Gene
First reported 2008
Supporting publications 3
Key publication · disorder Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.Blood cells, molecules & diseases · 2008
Manually curated
Association Review

In brief

The association between HBA1 (Hemoglobin Subunit Alpha 1) and Heterozygous Beta-Thalassemia Intermedia With Supernumerary Alpha-Globin Gene is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
HBA1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Heterozygous Beta-Thalassemia Intermedia With Supernumerary Alpha-Globin Gene

The disorder

1 database identifier

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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