Gene Information
hemoglobin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:4824]
HBA2 variants are associated with 5 diseases including Hb Bart's hydrops fetalis and alpha thalassemia-intellectual disability syndrome type 1 and 3 others, with 15 documented clinical phenotypes.
The HBA2 gene is associated with 5 medical conditions, including:
Research has identified 15 phenotypic features associated with HBA2 variants:
Hypochromic microcytic anemia
HP:0004840
Autosomal dominant inheritance
HP:0000006
HbH hemoglobin
HP:0011903
Nonspherocytic hemolytic anemia
HP:0001930
Increased hematocrit
HP:0001899
Hepatomegaly
HP:0002240
Reduced alpha/beta synthesis ratio
HP:0011907
Splenomegaly
HP:0001744
Reduced alpha/beta synthesis ratio
HP:0011907
Heinz body anemia
HP:0005511
Hemolytic anemia
HP:0001878
Polycythemia
HP:0001901
Increased circulating hemoglobin concentration
HP:0001900
Heinz bodies
HP:0020082
Autosomal dominant inheritance
HP:0000006
ClinVar contains 10 variants associated with HBA2. Below are some notable variants:
NM_000517.6(HBA2):c.186G>A (p.Lys62=)
Likely pathogenicVCV004280312
Review: no assertion criteria provided
NM_000517.6(HBA2):c.6dup (p.Leu3fs)
Likely pathogenicVCV004069097
Review: no assertion criteria provided
NM_000517.6(HBA2):c.163del (p.Gln55fs)
PathogenicVCV004069082
Review: no assertion criteria provided
NM_000517.6(HBA2):c.153del (p.His51fs)
Likely pathogenicVCV004069067
Review: no assertion criteria provided
NM_000517.6(HBA2):c.427_429delinsCAT (p.Ter143His)
Likely pathogenicVCV003896574
Review: criteria provided, single submitter
There are 378 publications about HBA2 indexed in PubMed. Below are some recent papers:
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.
Chetta M, Salamandra A, Tarsitano M
PMID: 41255956
•
2025
•
Appl Clin Genet
[Analysis of Thalassemia Gene Variants in the Wuhan Region].
Chen XF, Xiong YF, Su BT
PMID: 41234091
•
2025 Oct
•
Zhongguo Shi Yan Xue Ye Xue Za Zhi
Transcriptome biomarkers of colon cancer liver metastasis response to neoadjuvant triplet chemotherapy: a case series.
Babyshkina N, Dronova T, Eremin D
PMID: 41229882
•
2025 Jan-Dec
•
J Circ Biomark
Assessment of β-Thalassemia Trait Occurrence in an Outpatient Sample from Southern Chile: A Retrospective Study.
Balcázar-Villarroel M, Mancilla-Uribe A, Navia-León S
PMID: 41226051
•
2025 Oct 31
•
Diagnostics (Basel)
Genetic Analysis of a Patient with β-Thalassemia Major and Homozygous Hb Constant Spring in a Chinese Family.
Wang L, Zhou C, Zhu J
PMID: 41221759
•
2025 Nov 1
•
Clin Lab
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Last updated: 11/20/2025