Trait
Stomatocytosis
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
Summary
- Also called
- erythrocyte stomatocytes, Red cell stomatocytosis
Reference genomeGRCh38hg38
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Get my Genome Test15 genes linked to Stomatocytosis
Changes in these genes cause rare conditions in which Stomatocytosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCG8ATP binding cassette subfamily G member 8 | Always | In 2 conditions |
| GATA1GATA binding protein 1 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| RHAGRh associated glycoprotein | Always | In 4 conditions |
| SLC2A1solute carrier family 2 member 1 | Always | In 2 conditions |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Often (30–79%) | In 1 condition |
| ABCG5ATP binding cassette subfamily G member 5 | Often (30–79%) | In 1 condition |
| RHCERh blood group CcEe antigens | Often (30–79%) | In 2 conditions |
| RHDRh blood group D antigen | Often (30–79%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 2 conditions |
| EPB41erythrocyte membrane protein band 4.1 | Sometimes (5–29%) | In 1 condition |
| GYPCglycophorin C (Gerbich blood group) | Sometimes (5–29%) | In 1 condition |
| SPTA1spectrin alpha, erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| SPTBspectrin beta, erythrocytic | Sometimes (5–29%) | In 1 condition |
| GP1BAglycoprotein Ib platelet subunit alpha | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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