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||-|
When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth.
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.
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.
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I was diagnosed with alpha thalassemia a few years ago. The doctor told me that there wasn't anything to worry about. I noticed that whenever I exercise I start yawning a lot, I remember reading that you yawn to get more oxygen into your system. I would like to know if this is because of the thalassemia, and if yes, should i take any certain precautions before working out because of the thalassemia? See answer
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
I was previously tested and diagnosed with alpha-thalassemia. Does this disease go away or am I going to have this for the rest of my life? See answer