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An overview: Thalassemia
Thalassemia: Two main types:
• Alpha
• Beta
• Depend on type.
• Symptoms will not show until the age of 6 months in
most cases.
• As neonates have fetal hemoglobin.
Symptoms:
• 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:
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.
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
Mainly
affected
organs
Treatments:
Frequent blood
transfusions
Stem cell transplant
You can't prevent thalassemia
because they're inherited
Family planning
Prenatal tests
Family genetic
studies
Prevention:
Fruits/Vegetables that should be avoided or eliminated
from the diet:
• Prune juice.
• Watermelon.
• Spinach.
• Leafy green vegetables.
• Dates.
• Raisins.
• Broccoli.
Thank You

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Basics of 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
  • 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.