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GeneticICD-10: D56About 1,000 people in the US have thalassemia major; trait is much more common in certain ethnic groups

Thalassemia

Also known as: Cooley's anemia, Mediterranean anemia

Thalassemia is an inherited blood disorder in which the body produces abnormal or insufficient amounts of hemoglobin, the protein in red blood cells that carries oxygen. There are two main types, alpha and beta thalassemia, each with varying severity from mild trait to severe transfusion-dependent disease. Treatment depends on the type and severity and may range from monitoring to regular blood transfusions.

Symptoms

Fatigue and weakness
Pale or yellowish skin
Facial bone deformities in severe cases
Slow growth and delayed puberty in children
Abdominal swelling from enlarged spleen
Dark urine
Shortness of breath
Iron overload symptoms

Causes

  • Mutations in the genes that produce hemoglobin (alpha or beta globin genes)
  • Autosomal recessive inheritance pattern
  • Reduced or absent production of one type of hemoglobin chain

Risk Factors

  • Family history of thalassemia
  • Mediterranean, South Asian, Southeast Asian, or African ancestry
  • Both parents carrying a thalassemia gene

Diagnosis

  • Complete blood count showing microcytic anemia
  • Hemoglobin electrophoresis to identify abnormal hemoglobin
  • Genetic testing for specific mutations
  • Peripheral blood smear showing target cells
  • Prenatal testing through amniocentesis or chorionic villus sampling

Treatment

  • Regular blood transfusions for moderate to severe thalassemia
  • Iron chelation therapy to prevent iron overload from transfusions
  • Folic acid supplementation
  • Bone marrow or stem cell transplant as a potential cure
  • Gene therapy emerging as a promising treatment
  • Splenectomy if the spleen becomes enlarged

Prevention

  • Genetic counseling for at-risk couples
  • Carrier screening in populations with high prevalence
  • Prenatal testing for at-risk pregnancies

When to See a Doctor

  • Persistent fatigue and pale skin in a child
  • Known carrier status with plans for pregnancy
  • Symptoms of anemia not responding to iron supplements
  • Family history of thalassemia or unexplained anemia

Frequently Asked Questions

Related Conditions

Sickle Cell Disease

Genetic

Anemia

Metabolic

Iron Deficiency Anemia

Metabolic

Hemophilia

Genetic

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