Living with Alpha Thalassemia
A blood disorder in which the body makes less hemoglobin, the protein that carries oxygen, leading to anemia.
Understanding Alpha Thalassemia
With less hemoglobin, tissues may not get enough oxygen. People can also have anemia (a shortage of red blood cells), which can cause pale skin, weakness, and tiredness. Two types cause health problems: the more severe hemoglobin Bart hydrops fetalis syndrome (Hb Bart syndrome), and the milder HbH disease. Hb Bart syndrome involves fluid buildup in the body before birth, severe anemia, an enlarged liver and spleen, and heart or urinary system differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia (a shortage of red blood cells)
- Pale skin and tiredness
- Enlarged liver and spleen
- Heart failure
- Fluid around the heart or lungs
- Swelling throughout the body (edema)
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 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 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
GARD lists autosomal recessive inheritance, so a child inherits a changed copy of a gene from each parent. It doesn't name a gene on this page.
Also known as: alpha thalassaemia; alpha thalassemia spectrum; alpha thalassemia syndrome; alpha-thalassemia; thalassemia, alpha-; thalassemias, alpha-
Patient organizations
- Cooley's Anemia FoundationAlpha Thalassemia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha Thalassemia.
Explore research for Alpha Thalassemia
Explore actively recruiting Alpha Thalassemia studies with HealthSpark.
Find actively recruiting studies for Alpha 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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