This document provides an overview of thalassemia, which has two main types: alpha and beta. Symptoms generally do not appear until 6 months of age and can include jaundice, fatigue, shortness of breath, and infections. Alpha thalassemia is caused by insufficient alpha hemoglobin chains and its severity depends on the number of gene mutations from one to four. Beta thalassemia is caused by insufficient beta chains and also increases in severity with more gene mutations from one to two. Treatments include frequent blood transfusions, stem cell transplants, family planning and genetic testing. Prevention involves avoiding certain fruits and vegetables.

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