This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|5%-29% of people have these symptoms|
Abnormality of cognition
Mental impairment[ more ]
Yellowing of the skin[ more ]
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
|Hypochromic microcytic anemia||0004840|
|Reduced alpha/beta synthesis ratio||0011907|
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.
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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis should include iron deficiency anemia and defects in heme synthesis. An acquired form known as alpha-thalassemia-myelodysplastic syndrome (ATMDS; see this term) has been described mainly in adult males and should also be considered. It is characterized by myelodysplasia (MD) associated with HbH.
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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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
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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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