- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231249)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231249)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:231249)
- Abnormal hemoglobin (HP:0011902): Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231249)
These phenotypes are associated with the disease Hemoglobin E-beta-thalassemia syndrome (ORPHA:231249).