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Saoud Hassan: A Comprehensive Guide to Beta Thalassemia
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Jul 31, 2026, 15:07

Saoud Hassan: A Comprehensive Guide to Beta Thalassemia

Saoud Hassan, Medical Laboratory Technologist at Excel Labs (Pvt) Ltd, shared a post on LinkedIn:

“Beta thalassemia is an inherited blood disorder in which the body produces reduced or no beta-globin, a key component of hemoglobin (the protein in red blood cells that carries oxygen).

This leads to anemia of varying severity.

Types of beta thalassemia

Beta thalassemia trait (minor)

  • One abnormal beta-globin gene is inherited.
  • Usually causes mild anemia or no symptoms.
  • Most people live normal, healthy lives without treatment.

Beta thalassemia intermedia

  • Symptoms are moderate.
  • May require occasional blood transfusions.

Beta thalassemia major (Cooley anemia)

  • Two severely affected beta-globin genes are inherited.

Symptoms usually begin within the first 2 years of life.

Requires regular blood transfusions and ongoing medical care.

Symptoms

  • Fatigue and weakness
  • Pale skin
  • Shortness of breath
  • Poor growth (in children)
  • Enlarged spleen
  • Bone changes, especially in the face and skull (in severe cases)
  • Yellowing of the skin or eyes (jaundice)

Diagnosis

  • Complete blood count (CBC)
  • Peripheral blood smear
  • Hemoglobin electrophoresis or HPLC
  • Genetic testing to identify mutations

Treatment

Treatment depends on severity:

  • Minor: Usually no treatment; avoid taking iron supplements unless iron deficiency is confirmed.
  • Intermedia: Folic acid, monitoring, and occasional transfusions if needed.
  • Major: Regular blood transfusions. Iron chelation therapy to remove excess iron from transfusions

Folic acid supplementation if appropriate.

Hematopoietic stem cell transplantation may offer a cure in selected patients.

Some patients may also be eligible for newer gene-based therapies in specialized centers.

Is it inherited?

Yes. Beta thalassemia is inherited in an autosomal recessive pattern:

If both parents are carriers, each pregnancy has:

  • 25 percent chance of a child with beta thalassemia major.
  • 50 percent chance of a child who is a carrier (thalassemia trait).
  • 25 percent chance of a child without.”

Saoud Hassan: A Comprehensive Guide to Beta Thalassemia

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