Thalassemia: Symptoms, Causes & Treatment

Thalassemia is an inherited blood disease passed through genes from parents to children, affecting the production of hemoglobin, the protein that carries oxygen in red blood cells. In thalassemia, production of normal hemoglobin is deficient, so red blood cells become smaller, shorter-lived, and less efficient at carrying oxygen, leading to chronic anemia of degrees varying from very mild to severe. Thalassemia is among the most widespread genetic diseases in the Middle East and Mediterranean basin, so it has great health importance in Jordan and the region.

The severity of thalassemia differs by the number and type of affected genes. There is the thalassemia carrier (thalassemia trait), a person who carries one defective gene but is usually healthy and without symptoms or with mild anemia needing no treatment, yet can pass the gene to their children. There is intermediate thalassemia causing moderate anemia, and major thalassemia, the severe form whose symptoms appear in early childhood and include marked pallor, fatigue, poor growth, enlarged spleen, and yellowing of the skin, needing regular lifelong blood transfusions.

The disease is diagnosed by blood tests, hemoglobin analysis, and genetic tests. Treatment depends on severity: the carrier needs no treatment but education and screening of the partner before having children, while major thalassemia needs regular blood transfusions with medications to remove the excess iron accumulated from transfusions (one of the most important aspects of care), close monitoring of the heart, liver, and glands, and sometimes bone marrow transplant is a curative treatment in selected cases. Because the disease is inherited, premarital screening (available in Jordan) remains the most important means of prevention, as it detects carriers and lets the couple make an informed decision to avoid having a child with major thalassemia.

• Carrier: usually symptomless or mild anemia.
• Major thalassemia: pallor, fatigue, and poor growth in childhood.
• Enlarged spleen and yellowing of the skin.
• Symptoms of chronic anemia (breathlessness, palpitations).

• Inheriting defective genes from parents that affect hemoglobin production.
• A child developing the severe form when both parents carry the gene.
• Geographic prevalence in the Middle East and Mediterranean basin.

• Blood tests (complete blood count showing anemia with small cells).
• Hemoglobin analysis (electrophoresis).
• Genetic tests, and premarital screening to detect carriers.

Carrier (trait)

• Needs no treatment, but education and screening of the partner before having children.

Major thalassemia

• Regular lifelong blood transfusions.
• Medications to remove the accumulated excess iron (very important).
• Monitoring the heart, liver, and glands, and bone marrow transplant in selected cases (may be curative).

This content is educational and does not replace consulting a hematologist.

• Accumulation of excess iron from transfusions and effects on the heart, liver, and glands.
• Enlarged spleen and bone deformities in severe untreated cases.
• Complications of chronic anemia and impaired growth.

• Premarital screening to detect carriers (the most important prevention, available in Jordan).
• Genetic counseling for carrier couples before having children.
• Regular follow-up of patients to reduce complications.