Elliptocytosis 2: genes and variants
Elliptocytosis 2 is linked to 2 analyzed proteins (SPTA1 and SPTB). 6 DNA variants are known to cause it; 121 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Elliptocytosis 3
Genes linked to Elliptocytosis 2
SPTA1: Spectrin alpha chain, erythrocytic 1
It forms the alpha-spectrin lattice underlying the red-blood-cell membrane and provides elasticity needed to survive repeated passage through the circulation. Pathogenic variants cause hereditary elliptocytosis, hereditary spherocytosis, or severe hereditary pyropoikilocytosis.
3 disease-causing and 105 uncertain variants in SPTA1 are linked to Elliptocytosis 2.
SPTB: Spectrin beta chain, erythrocytic
It contributes beta-spectrin to the red-blood-cell membrane skeleton, linking the lipid bilayer to actin and ankyrin complexes. Pathogenic variants can cause hereditary spherocytosis, elliptocytosis, or related congenital hemolytic anemia.
3 disease-causing and 16 uncertain variants in SPTB are linked to Elliptocytosis 2.
Known disease-causing variants in Elliptocytosis 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SPTA1 R28C | 28 | Disease-causing (★★) | |
| SPTB E2075G | 2075 | Spectrin 17 | Disease-causing (★★) |
| SPTB A2018G | 2018 | Spectrin 17 | Disease-causing |
| SPTB R2064P | 2064 | Spectrin 17 | Disease-causing |
| SPTA1 R45S | 45 | Disease-causing | |
| SPTA1 R41W | 41 | Disease-causing |
Same protein, different disease
- Hereditary spherocytosis is also caused by SPTB variants; they fall mostly in different places as the Elliptocytosis 2 variants (7 disease-causing).
Diseases related to Elliptocytosis 2
- Hereditary spherocytosis, also linked to SPTA1 and SPTB
- Pyropoikilocytosis, hereditary, also linked to SPTA1 and SPTB
- Hemolytic anemia, also linked to SPTB
Frequently asked questions
Which genes are linked to Elliptocytosis 2?
In CATVariant, Elliptocytosis 2 is linked to 2 analyzed proteins: SPTA1 (Spectrin alpha chain, erythrocytic 1) and SPTB (Spectrin beta chain, erythrocytic).
How many genetic variants are linked to Elliptocytosis 2?
148 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 121 are of uncertain significance or have conflicting reports.
Which uncertain variants in Elliptocytosis 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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