Trait
Increased red blood cells
Clinical name: Polycythemia
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Summary
- Also called
- Abnormally shaped erythrocytes, Erythrocytosis, Polyglobulia
Reference genomeGRCh38hg38
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Get my Genome Test31 genes linked to Increased red blood cells
Changes in these genes cause rare conditions in which Increased red blood cells 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 |
|---|---|---|
| BPGMbisphosphoglycerate mutase | Always | In 1 condition |
| EDNRBendothelin receptor type B | Always | In 1 condition |
| EPAS1endothelial PAS domain protein 1 | Always | In 1 condition |
| HBBhemoglobin subunit beta | Always | In 1 condition |
| EPORerythropoietin receptor | Very often (80–99%) | In 1 condition |
| JAK2Janus kinase 2 | Very often (80–99%) | In 1 condition |
| SLC30A10solute carrier family 30 member 10 | Often (30–79%) | In 2 conditions |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Sometimes (5–29%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 2 conditions |
| GPC3glypican 3 | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POU6F2POU class 6 homeobox 2 | Sometimes (5–29%) | In 1 condition |
| RESTRE1 silencing transcription factor | Sometimes (5–29%) | In 1 condition |
| TRIM28tripartite motif containing 28 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 1 condition |
| CCND1cyclin D1 | Rarely (1–4%) | In 2 conditions |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Rarely (1–4%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Rarely (1–4%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Rarely (1–4%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Rarely (1–4%) | In 2 conditions |
| ACVRL1activin A receptor like type 1 | Not recorded | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Not recorded | In 1 condition |
| ENGendoglin | Not recorded | In 1 condition |
| EPOerythropoietin | Not recorded | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Not recorded | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Not recorded | In 1 condition |
| PKLRpyruvate kinase L/R | 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.
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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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