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What is Thalassemia?
Thalassemia is one of the most common hereditary blood disorders worldwide, caused by mutations in the hemoglobin genes. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to all parts of the body and delivers oxygen to muscles. These changes in hemoglobin cause severe anemia, and there are two types:
- Alpha Thalassemia: This type occurs due to a problem in one to four genes known as the alpha-globin genes.
- Beta Thalassemia: This type occurs due to mutations in one or two genes known as the beta-globin genes.
What are the Symptoms of Thalassemia?
- The primary symptom is anemia, which includes:
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- Pale skin and coldness in the feet and hands.
- Feeling tired and weak.
- Dizziness or vertigo.
- Frequent headaches.
- Shortness of breath.
- Rapid or irregular heartbeat.
- Difficulty concentrating.
- Cracks or redness in the tongue.
- Loss of appetite or cravings for unusual foods or items, such as dirt and ice.
- Iron overload in the body can lead to serious problems, including:
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- Heart issues, such as cardiomyopathy, irregular heartbeats, and heart failure.
- Liver cirrhosis.
- Delayed puberty.
- Decreased estrogen levels in women.
- Decreased testosterone levels in men.
- Developing diabetes.
- Thyroid disorders (hypothyroidism).
- Parathyroid gland issues (hypoparathyroidism).
- Delayed growth during childhood.
- Gallbladder stones, which may cause cholecystitis.
- Abnormal bone growth, like an enlarged forehead or cheeks.
- Weak and brittle bones.
- Reduced fertility.
What are the Causes and Risk Factors of Thalassemia?
A person develops thalassemia when they inherit gene mutations from one or both parents.
How is Thalassemia Diagnosed?
Thalassemia is often diagnosed during pregnancy or shortly after birth.
What are the Treatment Methods for Thalassemia?
There is no definitive cure for thalassemia, but treatment continues throughout life through:
- Regular blood transfusions.
- Medications to remove excess iron from the body due to continuous blood transfusions (known as chelation therapy).
- Stem cell or bone marrow transplants.
- Treating other issues related to thalassemia include:
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- Medications.
- Vaccinations and antibiotics to prevent and treat infections.
- Hormonal treatment for hypothyroidism.
- Gallbladder removal surgery to eliminate gallstones.
How to Prevent Thalassemia?
Once thalassemia is diagnosed, the doctor will request that the affected family members be tested to ensure they are free from any genetic mutations through a blood sample analysis.
It is crucial to know if a person carries the gene because if both parents are carriers, there is a chance their child may develop thalassemia. Therefore, if you or your partner carries the gene, it is important to see a doctor before planning a pregnancy for the safety of your child.
What are the Complications of Thalassemia?
- Enlarged spleen.
- Blood infections.
- Bone issues, such as facial or skull deformities or osteoporosis.
- High levels of iron in the blood can cause some problems in the heart, liver, or hormone levels, among other issues.
When Should I See a Doctor?
- If you notice any symptoms of thalassemia in your child.
- If you or your partner are carriers of the gene, you should see a doctor before planning a pregnancy.
Frequently Asked Questions:
When does marrying a thalassemia carrier pose a risk to children?
If both parents are carriers of the gene, that causes the disease, 25% of their children might be affected by the disease, and 25% might carry the gene.
