Living with Thalassemia
An inherited blood condition in which the body makes too little working hemoglobin, which can cause anemia and tiredness.
Understanding Thalassemia
There are two main types, alpha thalassemia and beta thalassemia. Signs and symptoms vary and may include mild to severe anemia, paleness, tiredness, and bone problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild to severe anemia
- Paleness
- Tiredness (fatigue)
- Yellowing of the skin (jaundice)
- Bone problems
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Cooley's Anemia Foundation
- 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
- 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
Beta thalassemia is caused by changes in the HBB gene, and alpha thalassemia by changes in the HBA1 and/or HBA2 genes. Both are autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hereditary leptocytosis; sickle-cell thalassemia with crisis; sickle-cell thalassemia without crisis; thalassemia hb-s disease with crisis; thalassemia hb-s disease without crisis; thalassemia syndrome
Patient organizations
- Cooley's Anemia FoundationThalassemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Thalassemia.
Explore research for Thalassemia
Explore actively recruiting Thalassemia studies with HealthSpark.
Find actively recruiting studies for 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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