The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the heme biosynthetic pathway||90%|
|Abnormality of immune system physiology||7.5%|
|Biliary tract abnormality||7.5%|
|Hypochromic microcytic anemia||-|
|Reduced alpha/beta synthesis ratio||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
My hemoglobin electrophoresis result showed that alpha thalassemia trait is a possibility. My wife is 5 months pregnant. Her result showed that she has beta thalassemia trait. It is the 3rd pregnancy. What is the probability of having an affected baby? See answer