Thalassemia

Definition of the Disease:

• A genetic blood disorder characterized by low levels of hemoglobin and a reduced number of red blood cells compared to normal levels.
• Other Names:
• Mediterranean Anemia.

Types of Thalassemia:

• Alpha Thalassemia
• Silent Carrier
• Caused by a mutation in only one genetic chain. The person carries the affected gene but shows no visible symptoms.
• Mild Alpha Thalassemia
• Caused by mutations in two genetic chains of the alpha type. Symptoms are very mild and may not be noticeable.
• Hemoglobin H Disease
• Results from mutations in three alpha genetic chains. The person experiences severe anemia with moderate to severe symptoms.
• Severe Alpha Thalassemia
• Caused by mutations in all four alpha genetic chains, leading to the death of the fetus before or shortly after birth.
• Beta Thalassemia
• Minor Beta Thalassemia
• Occurs due to a mutation in one beta genetic chain. The person may show no symptoms except mild anemia detected through routine blood tests.
• Major Beta Thalassemia
• Caused by mutations in both beta genetic chains. Symptoms include severe anemia, bone deformities, spleen enlargement, and a need for regular blood transfusions to sustain life.

Causes

• Thalassemia occurs due to genetic mutations in the DNA of blood-forming cells responsible for producing hemoglobin.
• These mutations are inherited from parents to children, leading to reduced hemoglobin levels and increased red blood cell destruction, resulting in anemia symptoms.

Risk Factors

• Family history of thalassemia.
• Geographical origin:
• Mediterranean regions (Italy, Greece, Cyprus).
• India, Pakistan, Bangladesh.
• Middle East, China, Southeast Asia.

Symptoms

• Anemia.
• Severe fatigue and weakness.
• Shortness of breath.
• Irregular heartbeat.
• Pale skin due to low hemoglobin levels.
• Delayed growth.
• Bone fragility.
• Reduced fertility.
• Excess iron in the body caused by repeated blood transfusions.

Complications

• Heart and Liver Diseases
• Regular blood transfusions can cause iron accumulation, leading to damage to organs and tissues, especially the heart and liver.
• Infections
• Increased susceptibility due to repeated blood transfusions.
• Bone Fragility
• Resulting from the effects of thalassemia on bones

Diagnosis

• Blood Tests
• Complete blood count (CBC).
• Hemoglobin analysis to determine its type.
• Iron level measurements in the blood.
• Genetic Studies
• Reviewing family medical history.
• Blood tests for family members to identify missing genes.
• Prenatal Testing
• Sampling amniotic fluid or placenta tissue to determine if the fetus has thalassemia.

Treatment

Treatment depends on the type and severity of thalassemia:

• Regular blood transfusions.
• Folic acid supplements.
• Stem cell transplantation.
• Managing complications such as iron accumulation.

Prevention

• Pre-marital screening to identify carriers and provide medical advice.
• Genetic counseling to assess the risk of disease transmission to children.
• Genetic studies to identify missing genes.
• Prenatal testing to detect the disease before birth.

Impact of Prevention

Reducing the number of patients contributes to:

• Enhancing healthcare quality in the community.
• Preserving financial resources for the state.
• Protecting society from psychological and physical suffering.
• Achieving a community free from thalassemia.