Phenotypes associated with the disease Hemoglobin E disease (ORPHA:2133, an Orphanet rare-disease identifier):
- Hypochromic microcytic anemia (HP:0004840, a Human Phenotype Ontology term): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2133)
- Anemia of inadequate production (HP:0010972, a Human Phenotype Ontology term): A kind of anemia characterized by inadequate production of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2133)
- Abnormal hemoglobin (HP:0011902, a Human Phenotype Ontology term): Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2133)
- Increased red blood cell count (HP:0020059, a Human Phenotype Ontology term): An abnormal elevation above the normal number of red blood cells per volume in the circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2133)
- 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2133)
- 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2133)
- Reduced hemoglobin A (HP:0011905, a Human Phenotype Ontology term): Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2133)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2133)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2133)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2133)
- Drug-sensitive hemolytic anemia (HP:0004817, a Human Phenotype Ontology term): A form of hemolytic anemia that is triggered by ingestion of certain drugs. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2133)
- Increased red cell osmotic resistance (HP:0005546, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2133)
- Miscarriage (HP:0005268, a Human Phenotype Ontology term): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:2133)