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 iron homeostasis||50%|
|Abnormality of temperature regulation||50%|
|Abnormality of the genital system||50%|
|Abnormality of the teeth||50%|
|Biliary tract abnormality||50%|
|Depressed nasal bridge||50%|
|Feeding difficulties in infancy||50%|
|Reduced bone mineral density||50%|
|Upslanted palpebral fissure||50%|
|Abnormality of color vision||7.5%|
|Abnormality of the thorax||7.5%|
|Bone marrow hypocellularity||7.5%|
|Elevated hepatic transaminases||7.5%|
|Neoplasm of the liver||7.5%|
|Primary adrenal insufficiency||7.5%|
|Sudden cardiac death||7.5%|
|Hypochromic microcytic anemia||-|
|Reduced beta/alpha synthesis ratio||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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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
My partner and I have both been diagnosed with beta-thalassemia minor. What is the likelihood of having a child without beta-thalassemia? See answer
I've been told that I am a carrier for beta-thalassemia and I have low levels of hemoglobin. Can I donate blood? See answer