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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
InteractionsPairs that share biology
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ReactionsRhea and Human-GEM, by subsystem
ReachWhat a compound can become

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PathwaysReactions grouped under one name
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AnatomyTissues, by what is expressed there
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DiseasesFeatures, genes, and where each sits

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Reference

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Proteins
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Processes
Anatomy
Cell types
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Materials
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Diseases

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

HBA2-related alpha thalassemia spectrum

MONDO:0100562Mondo

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Findings

No curated finding names HBA2-related alpha thalassemia spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Mild microcytic anemia caused by biallelic variation in the HBA2 gene.

Definition from the Mondo Disease Ontology (MONDO:0100562), read 2026-09-29. CC BY 4.0.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

HBA1; HBA2HGNC:4824
- Definitive · ClinGen · Autosomal recessive · 2023

Where it sits

A kind of: monogenic alpha thalassemia spectrum