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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Beta thalassemia major; Cooley's anemia; Beta thalassemia intermedia;
Blood Diseases; Endocrine Diseases
Beta-thalassemia is a
- Thalassemia major (also called Cooley's anemia) the more severe form, causing severe anemia and enlarged liver and spleen (
hepatosplenomegaly). This form usually becomes apparent before 2 years of age. If not treated, it causes failure to thrive and a shortened life expectancy. Treatment involves regular transfusions and chelation therapy to reduce iron overload. Treatment allows for normal growth and development. Bone marrow transplantationor cord blood transplantation may eliminate the need for regular treatment.
- Thalassemia intermedia the less severe form, becoming apparent later and causing milder anemia that does not require regular blood transfusions. People with this form are also at risk for iron overload.
Beta-thalassemia is caused by
People who have only one HBB gene mutation (
Very rarely, the inheritance of beta-thalassemia may be dominant. In this case, a person has only one mutated HBB gene, but has signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
The exact treatment plan for beta-thalassemia depends on the symptoms and severity in each person.
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|
Increased spleen size
|30%-79% of people have these symptoms|
|Abnormal skull morphology||
Abnormality of the skull
|Abnormality of iron homeostasis||0011031|
|Abnormality of temperature regulation||
Poor temperature regulation
|Reduced bone mineral density||
Low solidness and mass of the bones
|5%-29% of people have these symptoms|
Enlarged and thickened heart muscle
Open skin sore
Low platelet count
Blood clot in vein
|Percent of people who have these symptoms is not available through HPO|
|Hypochromic microcytic anemia||0004840|
|Reduced beta/alpha synthesis ratio||0011906|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.
- Thiotepa(Brand name: Tepadina) Manufactured by Adienne S.A.
FDA-approved indication: To reduce the risk of graft rejection when used in conjunction with high-dose busulfan and cyclophosphamide as a preparative regimen for allogeneichematopoietic progenitor (stem)
celltransplantation (HSCT) for pediatric patients with class 3 beta-thalassemia.
National Library of Medicine Drug Information Portal
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.
Cooley's Anemia Foundation
330 Seventh Avenue, Suite 200
New York, NY 10001
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
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.
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- Genetics Home Reference (GHR) contains information on Beta-thalassemia. This website is maintained by the National Library of Medicine.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- 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 National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Beta-thalassemia. Click on the link to view a sample search on this topic.
- Beta thalassemia. Genetics Home Reference. September, 2015; https://ghr.nlm.nih.gov/condition/beta-thalassemia.
- Origa R. Beta-Thalassemia. GeneReviews. January 25, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1426/.
- Benz EJ. Clinical manifestations and diagnosis of the thalassemias. UpToDate. Waltham, MA: UpToDate; January 8, 2018;
- Choudhry VP. Thalassemia Minor and Major: Current Management. The Indian Journal of Pediatrics. August, 2017; 84(8):607-611. https://www.ncbi.nlm.nih.gov/pubmed/28435994.
- Khera R, Singh T. Dominant ß-thalassemia A rare entity!. Indian J Pathol Microbiol. 2012; 55(3):422-423. https://www.ijpmonline.org/article.asp?issn=0377-4929;year=2012;volume=55;issue=3;spage=422;epage=423;aulast=Khera.