Trait
Macrocytic anemia
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Summary
- Also called
- Macrocytic anaemia
Reference genomeGRCh38hg38
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Get my Genome Test50 genes linked to Macrocytic anemia
Changes in these genes cause rare conditions in which Macrocytic anemia 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 |
|---|---|---|
| GATA1GATA binding protein 1 | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| PSMC1proteasome 26S subunit, ATPase 1 | Always | In 1 condition |
| RAC2Rac family small GTPase 2 | Always | In 1 condition |
| RACGAP1Rac GTPase activating protein 1 | Always | In 1 condition |
| RPL15ribosomal protein L15 | Always | In 1 condition |
| RPS26ribosomal protein S26 | Always | In 1 condition |
| RPS28ribosomal protein S28 | Always | In 1 condition |
| RPS7ribosomal protein S7 | Always | In 1 condition |
| SLC30A7solute carrier family 30 member 7 | Always | In 1 condition |
| TCN2transcobalamin 2 | Always | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Always | In 2 conditions |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| AMNamnion associated transmembrane protein | Very often (80–99%) | In 1 condition |
| CUBNcubilin | Very often (80–99%) | In 1 condition |
| RPS19ribosomal protein S19 | Very often (80–99%) | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Very often (80–99%) | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Often (30–79%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Often (30–79%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Often (30–79%) | In 1 condition |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Often (30–79%) | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Often (30–79%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Often (30–79%) | In 1 condition |
| RPL17ribosomal protein L17 | Often (30–79%) | In 1 condition |
| RPS14ribosomal protein S14 | Often (30–79%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Often (30–79%) | In 1 condition |
| SFXN4sideroflexin 4 | Often (30–79%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 1 condition |
| TPI1triosephosphate isomerase 1 | Often (30–79%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Often (30–79%) | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Sometimes (5–29%) | In 1 condition |
| DNM1Ldynamin 1L | Rarely (1–4%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rarely (1–4%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Rarely (1–4%) | In 1 condition |
| RHAGRh associated glycoprotein | Rarely (1–4%) | In 1 condition |
| RHCERh blood group CcEe antigens | Rarely (1–4%) | In 1 condition |
| RHDRh blood group D antigen | Rarely (1–4%) | In 1 condition |
| ALAS25'-aminolevulinate synthase 2 | Not recorded | In 1 condition |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Not recorded | In 1 condition |
Show 10 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| KIF23kinesin family member 23 | Not recorded | In 1 condition |
| LARS1leucyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Not recorded | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Not recorded | In 1 condition |
| RPL11ribosomal protein L11 | Not recorded | In 1 condition |
| RPL35Aribosomal protein L35a | Not recorded | In 1 condition |
| RPL5ribosomal protein L5 | Not recorded | In 1 condition |
| RPS17ribosomal protein S17 | Not recorded | In 1 condition |
| RPS24ribosomal protein S24 | 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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