Phenotypes associated with the disease microcytic anemia with liver iron overload (OMIM:206100, an entry in Online Mendelian Inheritance in Man):
- Erythroid hyperplasia (HP:0012132, a Human Phenotype Ontology term): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. Frequency: 1/1. (PMID:15459009)
- Decreased mean corpuscular volume (HP:0025066, a Human Phenotype Ontology term): 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. Frequency: 1/1. (PMID:15459009)
- Elevated hepatic iron concentration (HP:0012465, a Human Phenotype Ontology term): An increased level of iron in liver tissues. Evidence: PCS. Frequency: 1/1. (PMID:15459009)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:15459009)
- Elevated circulating iron concentration (HP:0003452, a Human Phenotype Ontology term): The concentration of iron cation in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:15459009)
- Hypochromia (HP:0032231, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:15459009)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:15459009)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:15459009)