Rising Cases of Thalassemia in Pakistan – What are the Reasons behind?

Thalassemia is a potentially life-threatening disease that remains a significant health concern in Pakistan. It is a blood disorder that affects the body’s ability to produce healthy red blood cells. The disorder also reduces hemoglobin production, which means that people with this condition will have fewer red blood cells to carry oxygen to their organs. It also leads to the destruction of too many red blood cells, which leads to anemia.

Thalassemia patients need regular blood transfusions and iron chelation. Qualified hematologists should be consulted in this case to diagnose the problem. However, thalassemia patients in Pakistan are unable to afford these treatments, making it hard for them to receive adequate care.

Thalassemia Causes

This disease is the result of mutations in a person’s DNA. The mutations associated with the disease are passed to children from their parents.

The proteins that makeup hemoglobin can be affected by mutations. If the production of either alpha or beta chains is reduced, then an individual has alpha-thalassemia or beta-thalassemia.

Alpha-thalassemia is determined by the number of gene mutations the patient carries. The more mutated genes they have, the more severe the disease will be.

In beta-thalassemia, the severity of the disease depends on which part of the hemoglobin molecule is affected.

Thalassemia Symptoms

The symptoms of thalassemia are based on its type. Some types of the disease can cause symptoms to show up after the age of 6 months. This is because neonates have a different type of hemoglobin called fetal hemoglobin.

These include:

• Jaundice and pale skin
• Fatigue
• Chest pain
• Shortness of breath
• Rapid heartbeat
• Delayed growth
• Dizziness
• Greater susceptibility to infection

Thalassemia Treatment

Treatment depends on the type and severity of the disease.

Blood transfusion

To replenish the levels of hemoglobin and red blood cell, the patient with thalassemia major may need 8 to 12 transfusions a year. Someone with less severe type will need 6-8 transfusions a year or more if they are under stress, ill, or infected.

Iron chelation

This involves removing excess iron from the bloodstream. Excess iron can cause damage to the organs. Doctors may also prescribe a medication to be taken by mouth or injected, depending on the severity of the problem.

Folic Acid Supplementation

People who receive blood transfusions, chelation therapy, and other treatments may need folic acid supplements to ensure that they are getting enough.

Bone Marrow, or Stem Cell, Transplant

A bone marrow transplant can be an effective treatment in severe cases. Red blood cells, hemoglobin, and platelets are all produced by bone marrow cells.

Surgery

In some cases, surgery may be required to correct bone abnormalities.

Reasons for Rising Cases of Thalassemia in Pakistan

Thalassemia is growing in number in Pakistan and is causing misery to patients and their families. Below are some factors that may be causing the rise of thalassemia in Pakistan:

1. The disease creates a heavy burden on the already overstretched national healthcare system. The blood transfusions that are necessary for people with thalassemia can place an immense strain on the health care system, and the supply of available blood.
2. In Pakistan, blood safety is especially imperative due to the high prevalence of transfusion transmissible infections, such as hepatitis B and C. The most common chronic transfusion recipients are those with thalassemia, and in some cases, even HIV.
3. Rapid manual screening kits are not evaluated and validated.
4. False-positive results are a possibility with kits. This is because they cannot detect low or medium-grade infections and will show false-negative results.
5. In Pakistan, $4500 is the cost of managing a child with thalassemia annually. This is more than the country’s per capita income.