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.”
Stay updated with Hemostasis Today.
-
Nov 9, 2026, 13:48PF4-ELISA–Negative HIT: Are We Missing a New Class of Anti-PF4 Immunothrombotic Disease?
-
Nov 9, 2026, 13:07Nandini Sadasivam: Gene Therapy for Sickle Cell Disease and Thalassaemia
-
Nov 9, 2026, 13:04Raising Awareness of Bleeding Disorders in Women and Girls – EHC
-
Nov 9, 2026, 12:59Rahul Bohra: Exploring the Complex Mechanisms of Sickle Cell Disease
-
Nov 9, 2026, 12:53Three Years of Movement and Thrombosis Awareness in the Czech Republic – World Thrombosis day
-
Nov 9, 2026, 12:51Octavio Marques Pontes-Neto: Intensive Blood-Pressure Control Reduces Cardiovascular Events After Ischemic Stroke
-
Nov 9, 2026, 12:49Irma Bagdoniene: What Really Makes Us Live Longer
-
Nov 9, 2026, 12:47Imo Akpan: Announcing the 2027 Women’s Hematology Summit
-
Nov 9, 2026, 12:45Shadi Yaghi: Rethinking Antithrombotic Therapy After Stroke