This slide contains the basic information about a genetic disorder Thalassemia.

1. WELCOME

2. An overview: Thalassemia

3. Thalassemia: Two main types:
• Alpha
• Beta

4. • Depend on type.
• Symptoms will not show until the age of 6 months in
most cases.
• As neonates have fetal hemoglobin.
Symptoms:

5. • Jaundice and pale skin
• Drowsiness and fatigue
• Chest pain
• Cold hands and feet
• Shortness of breath
• Leg cramps
• Rapid heart beat
• Poor feeding
• Delayed growth
• Headaches
• Dizziness and faintness
• Greater susceptibility to
infections
Major symptoms are:

6. Pathophysiology:
Alpha-Thalassemia
• Arises due to insufficient synthesis of alpha-hemoglobin
chains and an excess of beta chains.
• Four genes on chromosome 16 that are required to produce the
alpha region of hemoglobin,
• Number of gene mutations corresponds to the severity
1. One gene mutation: No signs or symptoms
2. Two gene mutations: Mild signs and symptoms
3. Three gene mutations: Moderate to severe symptoms,
4. Four gene mutations: Often fatal before or shortly after
childbirth.

7. Beta-Thalassemia
• Due to insufficient synthesis of beta-hemoglobin chains and an
excess of alpha chains.
• There are two genes on chromosome 11 that are required to produce
the beta region of the hemoglobin chain,
• The number of gene mutations corresponds to the severity
1. One gene mutation: Mild signs or symptoms
2. Two gene mutations: Moderate to severe symptoms, referred to as
beta-thalassemia major or Cooley’s anemia

8. Mainly
affected
organs

9. Treatments:
Frequent blood
transfusions
Stem cell transplant
You can't prevent thalassemia
because they're inherited
Family planning
Prenatal tests
Family genetic
studies
Prevention:

10. Fruits/Vegetables that should be avoided or eliminated
from the diet:
• Prune juice.
• Watermelon.
• Spinach.
• Leafy green vegetables.
• Dates.
• Raisins.
• Broccoli.

11. Thank You