Gene Information
hemoglobin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:4823]
HBA1 variants are associated with 5 diseases including obsolete autosomal dominant secondary polycythemia and hemoglobin M disease and 3 others, with 19 documented clinical phenotypes.
The HBA1 gene is associated with 5 medical conditions, including:
Research has identified 19 phenotypic features associated with HBA1 variants:
Nonspherocytic hemolytic anemia
HP:0001930
Increased hematocrit
HP:0001899
Autosomal dominant inheritance
HP:0000006
Reduced alpha/beta synthesis ratio
HP:0011907
Congenital onset
HP:0003577
Hemolytic anemia
HP:0001878
Hepatomegaly
HP:0002240
Heinz bodies
HP:0020082
Hypochromic microcytic anemia
HP:0004840
Cyanosis
HP:0000961
Splenomegaly
HP:0001744
Methemoglobinemia
HP:0012119
Autosomal dominant inheritance
HP:0000006
Polycythemia
HP:0001901
Increased circulating hemoglobin concentration
HP:0001900
ClinVar contains 10 variants associated with HBA1. Below are some notable variants:
NM_000558.5(HBA1):c.328C>T (p.Leu110=)
Likely pathogenicVCV004076507
Review: no assertion criteria provided
GRCh37/hg19 16p13.3(chr16:226678-227520)x1
not providedVCV004074288
Review: no classification provided
NM_000558.5(HBA1):c.386T>C (p.Phe129Ser)
Likely pathogenicVCV004074262
Review: no assertion criteria provided
NM_000558.5(HBA1):c.6dup (p.Leu3fs)
Likely pathogenicVCV004069059
Review: no assertion criteria provided
NM_000558.5(HBA1):c.388del (p.Leu130fs)
Likely pathogenicVCV004069050
Review: no assertion criteria provided
There are 18,232 publications about HBA1 indexed in PubMed. Below are some recent papers:
Metabolic Improvement Mediates the Causal Relationship Between GLP-1 Receptor Agonists and Myocardial Infarction: A Mendelian Randomization and Mediation Analysis Study.
Tong J, Li N, Hu F
PMID: 41259721
•
2025 Nov 19
•
Diabetes Care
Impact of targeted nursing care and nutritional support on clinical outcomes in diabetic nephropathy patients undergoing maintenance hemodialysis.
Yu X, Li Y, Zhang X
PMID: 41259455
•
2025
•
Braz J Med Biol Res
Effect of dietary fiber intake on blood pressure control in type 2 diabetic patients in selected hospitals of Ethiopia.
Hailu F, Ali JH, Nigatu YD
PMID: 41258480
•
2025 Nov 19
•
Sci Rep
The clinical implications of the interaction between hypothyroidism and diabetes mellitus.
Elhussein AB, Dawod OY, Abu IIM
PMID: 41258178
•
2025 Nov 19
•
Sci Rep
Neuroprotective Effects of Ficus carica Seed Oil in Diabetic Neuropathy: A Preclinical Study in Wistar Rats.
Oktay S, Turkkol A, Bozkurt-Girit O
PMID: 41257171
•
2024 Nov
•
J Clin Pract Res
Get instant, comprehensive insights on HBA1 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025