Thalassemia was first identified in 1925 by physicians Thomas Benton Cooley and Pearl Lee. The name originates from the Greek words “Thalas” (sea) and “emia” (blood), reflecting the fact that this form of anemia was commonly observed in people living near coastal regions.
Thalassemia is most prevalent in Asia, the Middle East, Africa, and countries along the Mediterranean coast (e.g., Greece, Turkey). In Azerbaijan, thalassemia is widespread—especially beta-thalassemia, with both major and intermediate forms being reported.
What Causes Thalassemia?
Thalassemia is a genetic blood disorder passed from parents to children. It affects the production of hemoglobin, a protein in red blood cells responsible for transporting oxygen throughout the body.
Hemoglobin is composed of iron and protein chains known as globins, which include alpha and beta chains. The key issue in thalassemia lies in the production of these globin chains.
In healthy adults, the primary type of hemoglobin is Hemoglobin A, consisting of two alpha and two beta chains. Thalassemia results from mutations that disrupt the formation of these chains:
Defects in the alpha chain cause alpha-thalassemia
Defects in the beta chain cause beta-thalassemia
Types of Thalassemia
Alpha-Thalassemia
The alpha chains are produced on chromosome 16, and each person inherits two genes from each parent (four in total).
(aa/a-) – One gene missing: Silent carrier, no symptoms
(a-/a-) – Two genes missing: Alpha-thalassemia trait, mild anemia
(a-/--) – Three genes missing: Hemoglobin H disease, moderate to severe anemia
Beta-Thalassemia
The beta chains are produced on chromosome 11, with one gene inherited from each parent (two in total).
One mutated gene → Beta-thalassemia minor (carrier): usually asymptomatic or mild anemia
Two mutated genes → Beta-thalassemia major (also known as Cooley’s anemia): leads to severe symptoms
Children born with two defective genes may appear healthy at birth, but symptoms typically emerge by age two. In rare cases, even with two mutated genes, symptoms may be mild and not require blood transfusions.
Symptoms of Thalassemia
Thalassemia is classified into carrier, intermediate, and major forms.
Carrier Symptoms:
Often asymptomatic
May have mild anemia
Moderate to Severe Thalassemia Symptoms:
General fatigue
Pale skin
Frequent infections
Poor appetite
Delayed growth
Jaundice (yellowing of skin and eyes)
Enlargement of liver and spleen
Diagnosis of Thalassemia
Diagnosis typically begins with family history screening. Couples with a known family history of thalassemia or those identified as carriers should undergo testing before or during pregnancy.
Tests may include:
Complete blood count (CBC)
Peripheral blood smear
Hemoglobin electrophoresis (to evaluate hemoglobin types and levels)
Genetic testing
Additional tests may be recommended by your physician
Treatment of Thalassemia
Treatment depends on the severity of the condition. Common approaches include:
Regular blood transfusions
Iron chelation therapy to prevent iron overload due to frequent transfusions
Folic acid supplementation
Bone marrow or stem cell transplantation (the only potential cure)
For more information or to book a consultation regarding thalassemia, call our Call Center at (012) 910 or reach us via WhatsApp at (055) 4000 910.
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