Genopathy
Gene-Disorder Association · Article
Gene
HBA2
Hemoglobin Subunit Alpha 2
Disorder
Methemoglobinemia, Beta Type
First reported 1959
Supporting publications 2
Key publication · disorder Clinical and laboratory features of two variants of methemoglobin M disease.The Journal of laboratory and clinical medicine · 1959
Manually curated
Association Review

In brief

The association between HBA2 (Hemoglobin Subunit Alpha 2) and Methemoglobinemia, Beta Type is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 3
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
HBA2

The gene

1 source summary

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

Request access
04
Methemoglobinemia, Beta Type

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

2 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Literature

Reading

2 publications

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

Request access
07
Provenance

References & sources

6 references

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

Request access