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HBA-LCR
Chr 16alpha-globin locus control region
Also known as: alpha-LCR
This locus control region regulates the developmental and tissue-specific expression of alpha-globin genes (HBZ, HBA2, HBA1, and HBQ1) through multiple regulatory elements, with the HS-40 enhancer serving as the major regulatory component that binds transcription factors and mediates chromatin looping during red blood cell development. Mutations in this regulatory region cause alpha thalassemias and alpha hemoglobinopathies, which are inherited in an autosomal recessive pattern. These conditions primarily affect red blood cell production and hemoglobin function, leading to anemia and related hematologic complications.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HBA-LCR?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 36 | 0 | 1 | 0 | 37 |
Likely Pathogenic | 18 | 0 | 0 | 0 | 18 |
VUS | 1 | 140 | 24 | 5 | 170 |
Likely Benign | 2 | 1 | 123 | 86 | 212 |
Benign | 2 | 0 | 53 | 0 | 55 |
Conflicting | — | 8 | |||
| Total | 59 | 141 | 201 | 91 | 500 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HBA-LCR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools