Phenotypes associated with the disease Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532):
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:46532)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:46532)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:46532)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:46532)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:46532)
- Persistence of hemoglobin F (HP:0011904): Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:46532)