Living with Beta Thalassemia
A blood condition in which the body makes less hemoglobin, causing anemia.
Understanding Beta Thalassemia
Low hemoglobin and a shortage of red blood cells (anemia) can cause pale skin, weakness, and tiredness. There are two types. Thalassemia major is more severe, starts in the first 2 years of life, and often needs regular blood transfusions. Thalassemia intermedia is milder and may start in early childhood or later. Frequent transfusions can lead to iron buildup.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low red blood cells (anemia)
- Pale skin
- Muscle weakness and irritability
- Enlarged spleen or liver
- Low bone density
- Skull and bone shape changes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Cooley's Anemia Foundation and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Cooley's Anemia Foundation, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cooley's Anemia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: beta thalassemia syndrome; beta-thalassemia; bthal; cooley's anemia; erythroblastic anemia; mediterranean anemia
Patient organizations
- Cooley's Anemia FoundationBeta Thalassemia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Beta Thalassemia.
Explore research for Beta Thalassemia
Explore actively recruiting Beta Thalassemia studies with HealthSpark.
Find actively recruiting studies for Beta Thalassemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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