Thalassemia

Thalassaemia is a genetic disorder that affects the red blood cells and is passed on from the parents. It is a condition in which the body produces abnormal haemoglobin, resulting in excessive damage of red blood cells which ultimately leads to anaemia.

The signs and symptoms of thalassemia can vary in different states, such as

1. Carrier state: A person in a carrier state may have a thalassemia gene in them but they do not present with any symptoms.

2. Mild thalassemia: These are the people suffering from alpha or beta-thalassemia minor. Their symptoms are:

• Mild anaemia
• Tiredness due to anaemia. 

However, some of the people with alpha or beta thalassemia minor do not present with any symptoms.

3. Moderate thalassemia: These are the people suffering from beta-thalassemia intermedia. These people can present with the following symptoms:

• Mild to moderate anaemia
• Slow growth and development
• Delayed puberty
• Expansion of bone marrow
• Weak bones
• Enlarged spleen 

4. Severe thalassemia: These are the people suffering from either haemoglobin H disease or beta-thalassemia major. These people present with severe symptoms of thalassemia. The symptoms start appearing within the first two years of birth. The symptoms are:

• Severe anaemia
• Pale and listless appearance
• Loss of appetite
• Dark coloured urine (due to breakdown of red blood cells)
• Slow growth and development
• Delayed puberty
• Jaundice 
• Enlargement of organs like spleen, liver or heart
• Weakening of bone

There are two major types of thalassemia. Most of the people suffering from thalassemia present with the beta form. The two types are:

1. Alpha thalassemia: this occurs when a genes associated with the alpha globin protein are missing or they mutate.
2. Beta thalassemia: this occurs when the production of the beta globin protein is affected by a similar gene.

The main cause for the development of this disease is an abnormality in the genes involved in haemoglobin production. The genetic defect is mostly inherited from the parents. In case of only one parent having the condition, the child will be a carrier and may show minor or no signs of the disease. Thalassemia can affect alpha as well as beta chains of the red blood cells. Based on whether the offspring inherits one or two genes from the parents of alpha or beta thalassemia, the symptoms vary from nothing to life-threatening anaemia that needs frequent blood transfusions.

The symptoms of moderate and severe forms of thalassemia are usually seen in early childhood, so the diagnosis of the disease is done within the first two years of life. The doctor would diagnose the disease with the help of the following tests:

• Complete Blood Count: A complete blood count (CBC) is a blood test which is done to measures the amount of haemoglobin in the blood. CBC also helps in measuring the size, number and quality of other kinds of blood cells, such as red blood cells and white blood cells.
• Haemoglobin electrophoresis: Haemoglobin electrophoresis with haemoglobin F and A2 quantitation is a test which helps in determining the different types of haemoglobin in the body. This helps, as people with thalassemia may have faulty alpha or beta globin protein chains of haemoglobin.

The treatment of thalassemia varies depending on the severity of the symptoms Some of the most common treatment methods are:

• Blood transfusion
• Doctors may prescribe supplements such as folic acid, calcium or vitamin D, and insist on limiting iron-rich foods in the diet. Iron supplements must be avoided at all cost
• Bone marrow transplant
• In some cases, surgery may be required to remove the spleen.

(Consult a doctor with doctor consultation app)

There are some things that a person with thalassemia should do in order live their life just like a healthy human being:

• Stick to your treatment plan
  • Take your folic acid supplements, as prescribed by the doctor.
  • Keep your blood transfusion appointments. Scheduled them in advance.
  • Since iron chelation treatment takes time and is slightly painful, people tend to skip their medications. Do not skip or stop your medication without consulting your doctor.
• Keep your vaccinations up to date
  • Get yourself vaccinated with all the necessary vaccines such as Haemophilus influenzae type b (Hib) vaccine, pneumococcal vaccine and meningococcal vaccine.
• Avoid iron-rich food
  • ​People living with thalassemia, especially those who get blood transfusion on a regular basis, should avoid iron-rich food such as spinach, meat, chicken liver, offal and cereals. This is because their body is already dealing with too much iron build-up in the blood due to the transfusions. Before eating any such food item, consult your doctor. 
• Exercise regularly
  • Doctors recommend that people with thalassemia should indulge in moderate physical activities such as cycling, running, and walking. If they have any problems in their joints, they can do low-impact activities such as yoga, swimming, or water aerobics.