Thalassemia: Treatment, Procedure, Cost and Side Effects

Thalassemia is a blood disorder caused by abnormal hemoglobin and red blood cell production. Hemoglobin assists your red blood cells in carrying oxygen. Less red blood cells and low hemoglobin may result in anemia. You may feel weak and fatigued all the time. You may also experience abdominal swelling, dark urine or pale skin. This is an inherited condition and can be diagnoses at early childhood stage. People with mild thalassemia may need blood transfusion. People with moderate to severe thalassemia require frequent blood transfusion. Stem cell transplant is another treatment for people suffering with severe thalassemia.

Common signs of thalassemia amongst all types include:

• Slow growth in early stages.
• Abdominal swelling and pain.
• Weakness.
• Fatigue.
• Pale or yellowish skin.
• Dark urine.
• Facial bone deformities.

The root cause of this blood disease is a mutation in hemoglobin cells. This mutation cannot be created within but gets transferred from the parents.

The composition of hemoglobin consists of two types of DNA chains named Alpha and Beta chains. Thalassemia triggers when one of them is decreased and triggered.

Alpha-thalassemia involves four kinds of DNA chains; the number of muted chins determines the activation status and level of severity. In order to get activated, one must have at least 2 muted chains out of 4 from both the parents. If a person has only 1 mutated chain they become inactive carriers of the disease.

The mutations triggered by birth result in stillbirth or the need for blood transfusion from birth.

On the other hand, beta-thalassemia involves only two chains and it depends on the damage caused to hemoglobin molecules due to the DNA mutation that gets them triggered or not.

Single chain mutation causes mild symptoms and mutation in both of the chains is worse than a single one. It is slower in process and shows its signs within two years of birth.

The test used to diagnose thalassemia includes:

• CBC - complete blood count.
• Iron level.
• Hemoglobin electrophoresis.
• A reticulocyte count.
• Genetic testing.

During blood transfusion, the components of your blood that are required in a particular region are transferred intravenously. If your condition requires frequent blood transfusions, there is a high possibility of iron building up in your blood. You will have to take regular medications to flush out the excess iron in your blood. Stem cell transplant, also known as bone marrow transplant, is a process wherein the patient’s stem cells are transplanted. The stem cells are usually derived from bone marrow or umbilical cord blood. This process is highly effective for children born with severe thalassemia. If done right at birth, it eliminates the need for blood transfusion and medications throughout life.

People who suffer from constant fatigue or weakness and are experiencing abdominal swelling, dark urine, pale skin or facial bone deformities are at high risk of being diagnosed with thalassemia. Also, people who have a family history involving thalassemia have a high chance of inheriting it.

If you are going through some other medical condition, the weakness, dark urine or pale skin may be due the medications being taken for it.

Since it is a genetic disorder, prevention from this mutation is not possible once it gets activated.

One can identify it via genetic testing and diagnose the presence of the gene mutation before conceiving.

Blood transfusions can build up a huge amount of iron in your blood. You will have to take oral medications like deferasirox to remove the excess iron.

You must protect yourself from infections by frequently washing your hands with soap. You may also have to take folic acid supplements to increase the red blood cell count in your body. Your diet must be healthy and should contain adequate calcium and vitamin D. Do not take vitamin or other supplements that contain iron.

Mild thalassemia may be treated in a short time. Severe thalassemia may take a few years or even your whole life. You may have to keep getting blood transfusions regularly.

The cost of a blood transfusion process may be between ₹10000 - ₹ 15000. A bone marrow may cost anything between ₹20Lakh - ₹35Lakh.

No, treatment plans for thalassemia may not show any permanent results as the root cause of the disease is hereditary and cannot be altered by Morden medication or even a blood transfusion.

Since the low level of hemoglobin causes Oxygen deficiency, it is important for the patient to have a well-balanced diet enriched with high protein, fiber, vitamins, and minerals. But in case one is undergoing blood transfusion or any iron medication, then one may want to avoid iron-rich foods, as it can overdose on the iron content.

Here is the list of food items that patients can add to their diet:

• Dairy ( without Vitamin D ) - milk, cheese, curd, etc.
• Eggs.
• Beans.
• Peanut.
• Butter.
• Soy.

There is no alternative treatment for thalassemia but you can manage your thalassemia at home by taking a diet rich in calcium and vitamin D and maintaining very good hygienic conditions so that you stay away from infections.

Most people with thalassemia find it difficult to perform daily routine activities and exercise due to low energy levels. In a few cases where one has mild symptoms, they can go for mild to moderate forms of everyday exercise like walking, cardio, running, swimming, yoga, biking, etc.

Summary: Thalassemia can be described as a genetic blood disorder where a person is inherent with low levels of hemoglobin. Even though there is no cure for the disease so far, medical treatment may help you sustain your lifeline.