Thalassemia
Overview
Thalassemia is a genetic blood disorder in which the body makes less hemoglobin than normal. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Because of this, people with thalassemia often have fewer healthy red blood cells, leading to anemia.
Main types of Thalassemia
Alpha Thalassemia
This type occurs when there are problems with the alpha globin genes. There are four alpha globin genes, and the severity of the disease depends on how many are missing or not working properly:
1- Silent Carrier: One gene is affected; usually no symptoms.
2- Alpha Thalassemia Trait: Two genes are affected; mild anemia may occur.
3- Hemoglobin H Disease: Three genes are affected; moderate to severe anemia requiring treatment.
4- Alpha Thalassemia Major: All four genes are affected; this severe form can lead to serious complications and is often life-threatening.
Beta Thalassemia
This type occurs when there are issues with the beta globin genes. The severity also varies based on the number of affected genes:
1- Beta Thalassemia Minor (Trait): One gene is affected; usually no symptoms or mild anemia.
2- Beta Thalassemia Intermedia: Both genes are affected but symptoms are less severe than in major cases.
3- Beta Thalassemia Major (Cooley Anemia): Both genes are severely affected; this leads to severe anemia and requires regular blood transfusions.
Combination Hemoglobinopathies
These occur when a person inherits different abnormal hemoglobin genes, such as Hemoglobin E/β-thalassemia or Hemoglobin S/β-thalassemia.
Common signs and symptoms
Thalassemia usually present in early childhood, often within the first two years of life. The symptoms of thalassemia vary based on how severe the condition is and how it is treated. Each child may show different symptoms.
- Fatigue
- Paleness
- Shortness of breath
- Dizziness
- Yellowing of the skin and eyes
- Enlarged spleen
- Delayed growth
- Bone problems and deformities
- Dark urine
- Heart complications
Diagnostic tests and procedures
- Complete blood count (CBC) to assess hemoglobin levels and the characteristics of red blood cells.
- Hemoglobin electrophoresis to identify specific types of thalassemia.
- Genetic testing to confirm the diagnosis and determine if family members are carriers of the condition.
- Prenatal testing can be done during pregnancy to check if a baby has thalassemia.
Treatment options
The management of thalassemia depends on its severity:
Regular blood transfusions to maintain healthy hemoglobin levels, sometimes as frequently as every few weeks.
Chelation therapy to eliminate excess iron from the body, due to frequent transfusions.
Bone marrow transplant (BMT) to replace defective bone marrow with healthy stem cells from a compatible donor.
Folic acid supplements.
Possible surgical removal of the gallbladder.
Gene therapy.
The Journey of Healing Starts Here
If you or your loved one is experiencing symptoms of Thalassemia, our expert hematology team is here to help. We provide comprehensive diagnostic services, individualized treatment plans, and ongoing support to ensure the best outcomes.
Prognosis
In the past, children with thalassemia who needed regular blood transfusions often had a shorter life expectancy. Today, thanks to blood transfusion therapy and effective treatments to remove excess iron from the body, children with severe thalassemia are living longer and healthier lives.
At our center, we understand the complexities of thalassemia and are committed to delivering personalized treatment plans. We prioritize patient safety and comfort throughout the treatment process. Our facility is equipped with modern technology and resources to support our patients’ needs. We also offer educational resources for families to help them understand thalassemia and its management better.
We have also successfully performed allogenic bone marrow transplants in high-risk thalassemia patients, achieving this without any documented transplant-related mortalities.