Disease Directory Beta-Thalassemia
Blood

Beta-Thalassemia

Also known as: Cooley anemia, beta-thal, Mediterranean anemia

Prevalence

1 in 100,000 in Western countries; higher in Mediterranean, Middle East, and Southeast Asia

Onset

Infancy to early childhood

Type

Autosomal recessive

Gene

HBB

About Beta-Thalassemia

Beta-thalassemia is an inherited blood disorder caused by mutations in the HBB gene that reduce or eliminate production of the beta-globin chain of hemoglobin, leading to chronic hemolytic anemia. The severity ranges from thalassemia minor (trait, typically asymptomatic) to thalassemia intermedia and thalassemia major (Cooley anemia), which requires lifelong transfusions. Without treatment, thalassemia major causes progressive organ damage from iron overload and severe anemia.

Common Clinical Features

Severe chronic anemia requiring regular red blood cell transfusions Splenomegaly and hepatomegaly from extramedullary hematopoiesis Skeletal deformities including frontal bossing and maxillary hyperplasia Growth retardation and delayed puberty Iron overload causing cardiac, liver, and endocrine complications Jaundice and pallor Fatigue and exercise intolerance Increased susceptibility to infections

Clinical Trial Eligibility Tips

What to know before applying to Beta-Thalassemia trials.

Transfusion-dependent patients (TDT) and non-transfusion-dependent patients (NTDT) are often enrolled in separate trial arms — clarify your transfusion history and frequency before screening.

Many gene therapy and gene editing trials require patients to have no matched sibling donor and adequate organ function; obtain recent ferritin, liver iron concentration (LIC), and cardiac T2* MRI results.

Prior splenectomy status and alloantibody burden from transfusions may affect eligibility — gather your full transfusion and surgical history.

Patient Resources

Patient Organization

Thalassemia International Federation

Visit website ↗

Natural History Registry

Thalassemia Patient Registry (TIF)

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:848)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Beta-Thalassemia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Beta-Thalassemia. Updated daily.

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