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Disease Profile
Alpha-thalassemia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
All ages
ICD-10
D56.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
A-Thalassemia; Alpha thalassemia
Summary
Alpha-thalassemia is a
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal hemoglobin | 0011902 | |
Microcytic |
0001935 | |
5%-29% of people have these symptoms | ||
Abnormality of |
0010978 | |
Cholelithiasis |
Gallstones
|
0001081 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
0001878 | ||
Hydrops fetalis | 0001789 | |
Hypersplenism | 0001971 | |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Myelodysplasia | 0002863 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Hypochromic microcytic anemia | 0004840 | |
Reduced alpha/beta synthesis ratio | 0011907 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Deferasirox(Brand name: Exjade) Manufactured by Novartis Pharmaceuticals Corporation
FDA-approved indication: 1. Treatment of chronic iron overload in patients 10 years of age and older with non-transfusion-dependent thalassemia (NTDT)syndromes and with a liver iron concentration (LIC) of at least 5 milligrams of iron per gram of liver dry weight (mg Fe/g dw) and a serum ferritin greater than 300 mcg/L. 2. Also treatment of chronic iron overload due to blood transfusions (transfusional hemosiderosis) in patients 2 years of age or older.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Related diseases
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.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
Cooley's Anemia Foundation
330 Seventh Avenue, Suite 200
New York, NY 10001
Telephone: 212-279-8090
Fax: 212-279-5999
E-mail: https://www.thalassemia.org/about-the-foundation/contact/
Website: https://www.thalassemia.org/ -
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: [email protected]
Website: https://www.enerca.org -
Thalassaemia International Federation
PO Box 28807
Nicosia 2083
Cyprus
Telephone: +357 22 319 129
Fax: +357 22 314 552
E-mail: [email protected]
Website: https://thalassaemia.org.cy
Learn more
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Alpha-thalassemia. This website is maintained by the National Library of Medicine.
- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha-thalassemia. Click on the link to view a sample search on this topic.
References
- Alpha thalassemia. Genetics Home Reference. August 2009; https://ghr.nlm.nih.gov/condition/alpha-thalassemia. Accessed 1/23/2012.
- Alpha-Thalassemia. GeneReviews. July 15, 2008; https://www.ncbi.nlm.nih.gov/books/NBK1435/. Accessed 1/23/2012.
- Thalassemia. Mayo Clinic. January 2, 2014; https://www.mayoclinic.org/diseases-conditions/thalassemia/basics/causes/con-20030316.
- National Heart Lung and Blood Institute. Thalassemias. How Are Thalassemias Treated?. August 1, 2010; https://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/treatment.html. Accessed 1/23/2012.
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