Aliases: HBA-T3.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Alpha Thalassemia |
untyped
Causative
|
mechanism: Defective Alpha-Globin Synthesis
|
| Beta Thalassemia | no genetic record |
mechanism: Alpha-Globin Chain Excess
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| unstable hemoglobin disease MONDO:0020459 | AD | Moderate 2023-11-22 |
no dismech entry |
| methemoglobinemia, alpha type MONDO:0020835 | AD | Limited 2024-03-28 |
no dismech entry |
| erythrocytosis, familial, 7 MONDO:0054802 | AD | Moderate 2023-10-25 |
no dismech entry |
| HBA1-related alpha thalassemia spectrum MONDO:0100561 | AR | Definitive 2024-09-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.