Thalassemia: Meaning, Diagnosis and Overview

What is Thalassemia?

Thalassemia is an inherited blood disorder characterized by less haemoglobin and fewer red blood cells in your body than normal. Hemoglobin is the substance (protein) in your red blood cells that allows them to carry oxygen. This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. If both of your parents are carriers of Thalassemia, you have a 25% chance of inheriting a more serious form of the disease. The low hemoglobin and fewer red blood cells of Thalassemia may cause anemia, leaving you fatigued.
Several types of Thalassemia exist, including alpha-thalassemia, beta-thalassemia, Cooleys anemia and Mediterranean anemia.

 

Recovery Time

We cannot predict the recovery time.

Diagnosis

• Blood tests
• Complete blood count
• Reticulocyte count
• Iron
• Genetic testing
• Prenatal testing
• Chorionic villus sampling
• Amniocentesis

FAQs prepared by doctor

Q1.  What is Thalassemia?
Thalassemia is a genetic disorder in which there is defective synthesis of haemoglobin. It manifests as anemia.

Q2.  How do I get Thalassemia?
You are likely to get Thalassemia if either or both of your parents are carriers or are having Thalassemia.

Q3.  How do I know I have Thalassemia?
Thalassemia manifests as anemia. Blood iron studies will help in differentiating it from other forms of anemia. Hemoglobin electrophoresis will confirm the diagnosis.

Q4.  What is the treatment for Thalassemia?

• Thalassemia patients would require frequent blood transfusions depending upon the severity of the disease. They would also require medication to reduce the iron overload.
• Spleenectomy is done electively to reduce the destruction of blood cells, if the spleen is very much enlarged.
• Recent treatment modalities include the use of cord blood cell of the sibling which aim at curing Thalessemia.

Q5.  Can I live a normal life with Thalassemia?
Mild thalassemic patients can live a normal life without requiring any treatment. But severe thalassemic patients require frequent blood transfusions and iron chelation therapy which decreases the quality of life.

Q6.  What are the complications of Thalassemia?

• Thalassemia patients are susceptible to frequent infection and weak or brittle  bones due to bone marrow expansion. It would also slower growth in children and delay in puberty.
• Iron overload causes deposition of iron in the heart, liver and endocrine organs if chelation therapy is not adequate.

Q7.  How do I prevent Thalassemia?
Thalassemia in children can be prevented if proper genetic counselling is done before and after marriage. Marriage between Thalassemia gene carriers should be avoided if possible.