Beta thalassemia

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Beta thalassemia
Synonyms	β-thalassemia
Pronounce	N/A
Specialty	N/A
Symptoms	Anemia, fatigue, pallor, jaundice, splenomegaly
Complications	Iron overload, heart failure, liver disease
Onset	Childhood
Duration	Lifelong
Types	Thalassemia major, Thalassemia intermedia, Thalassemia minor
Causes	Mutations in the HBB gene
Risks	Family history, Mediterranean, Middle Eastern, South Asian descent
Diagnosis	Complete blood count, hemoglobin electrophoresis, genetic testing
Differential diagnosis	Iron deficiency anemia, sickle cell disease
Prevention	Genetic counseling
Treatment	Blood transfusion, iron chelation therapy, bone marrow transplant
Medication	Deferoxamine, deferasirox, deferiprone
Prognosis	Variable, depends on type and treatment
Frequency	Common in certain populations
Deaths	N/A

Beta Thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. This condition is characterized by a deficiency in the production of beta-globin, a component of hemoglobin.

Causes

Beta Thalassemia is caused by mutations in the HBB gene, which provides instructions for making beta-globin. These mutations can be inherited from both parents, in which case the condition is known as beta thalassemia major or Cooley's anemia. If the mutation is inherited from only one parent, the condition is known as beta thalassemia minor or beta thalassemia trait.

Symptoms

The symptoms of beta thalassemia vary depending on the severity of the condition. In cases of beta thalassemia major, symptoms may include severe anemia, failure to thrive, and enlarged spleen (splenomegaly). Individuals with beta thalassemia minor may have mild anemia but are often asymptomatic.

Diagnosis

Beta Thalassemia is typically diagnosed through blood tests that measure the amount and type of hemoglobin in the blood. Genetic testing may also be used to confirm the diagnosis and identify the specific mutations in the HBB gene.

Treatment

Treatment for beta thalassemia depends on the severity of the condition. For individuals with beta thalassemia major, regular blood transfusions and iron chelation therapy to remove excess iron from the body may be necessary. In some cases, a bone marrow transplant may be considered.

Beta thalassemia gallery

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  Anemia

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  Protein HBB PDB 1a00

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  B-Thal

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  Spleen after spleenectomy

See Also

• Alpha Thalassemia
• Hemoglobinopathy
• Genetic Disorders
• Anemia

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