Overview
Thalassemia (thal-uh-SEE-me-uh) is a genetic blood disorder characterized by abnormal hemoglobin production. Hemoglobin, found in red blood cells, transports oxygen throughout the body. In Thalassemia, the body produces insufficient healthy hemoglobin, leading to anemia.
Types of Thalassemia
Alpha Thalassemia
- Hemoglobin H Disease: Chronic anemia due to three missing or defective alpha globin genes.
- Alpha Thalassemia Minima: No symptoms.
- Alpha Thalassemia Minor: Mild anemia.
b. Beta Thalassemia
- Thalassemia Minor (Beta Thalassemia Minor): Mild or no anemia.
- Thalassemia Major (Colley’s Anemia): Severe anemia requiring regular blood transfusions.
Causes of Thalassemia
Thalassemia results from genetic mutations affecting hemoglobin production. Inherited from parents, it occurs more frequently in people with ancestral links to malaria-prevalent regions (Africa, Southern Europe, West, South, and East Asia).
Risk Factors of Thalassemia
- Ancestry from malaria-endemic regions.
- Inherited genetic mutations from both parents.
Symptoms of Thalassemia
1. Bone deformities (especially facial bones)
2. Dark urine.
3. Delayed growth and development.
4. Excessive fatigue.
5. Shortness of breath.
6. Yellow or pale skin.
7. Abdominal swelling.
Diagnosis of Thalassemia
- Complete blood count (CBC)
- Hemoglobin electrophoresis
- Prenatal testing for at-risk pregnancies.
Treatment for Thalassemia
- Blood transfusions
- Bone marrow transplant
- Medications (e.g., Deferasirox for iron overload)
- Cholecystectomy (for gallstones)
- Dietary adjustments (limit iron-rich foods).
When to seek medical attention ?
- Regular follow-ups with a hematologist
- Seek immediate medical attention for severe symptoms or complications.