- Decreased mean corpuscular volume (HP:0025066): A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). Evidence: PCS. (PMID:17485548)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:616860)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:616860)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. (PMID:25342667)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. (PMID:25342667)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: PCS. (PMID:25342667)
- Conjugated hyperbilirubinemia (HP:0002908). Evidence: PCS. (PMID:17485548)
- Elevated hepatic iron concentration (HP:0012465): An increased level of iron in liver tissues. Evidence: PCS. (PMID:25342667)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. (PMID:25342667)
- Hypochromia (HP:0032231): A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. Evidence: IEA. (OMIM:616860)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:25342667)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. (PMID:25342667)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: PCS. (PMID:25342667)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. (PMID:17485548)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:616860)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. (OMIM:616860)
These phenotypes are associated with the disease sideroblastic anemia 3 (OMIM:616860).