Thalassemia is preventable

Thalassemia is an inherited disorder in which the body makes an abnormal form of hemoglobin, a protein molecule in red blood cells that carries oxygen. The disorder results in over destruction of red blood cells that leads to anemia which means the body does not have enough normal and healthy red blood cells. Thalassemia is a preventable disease.sni

Centers for Disease Control & Prevention (CDC), USA states thalassemia is most common in Asian, Middle Eastern, African, and Mediterranean population. Today, more than 10 million people in Pakistan are suffering from this disease. Moreover, more than 5000 patients are diagnosed with the disorder every year in the country.sni

Types of thalassemia

Thalassemia has two types; major and minor. Patients with thalassemia minor, though suffer from anemia do not need blood transfusion. While in thalassemia major, a patient needs blood transfusion on regular basis. There is another form called thalassemia intermediate which is rare.sni

Causes & Symptoms

The disorder occurs when there is an abnormality or mutation in one of the genes involved in hemoglobin production. Children inherit this problem from their parents. If only one of the parents is a carrier of thalassemia, they may become a thalassemia minor. In this case a patient probably would not have symptoms, but he will be a carrier of the disease. Some people with the minor type develop minor symptoms.sni

If both parents are carriers of the disorder then a child has a greater chance of inheriting a more serious form of the disease.sni

Symptoms of the major type appear at the age of three or four months of birth. A child can be fussy, pale, have frequent infections, poor appetite, jaundice and enlarged organs. This form of thalassemia is usually so severe that it requires regular blood transfusions.sni

Diagnosis & treatment

The disorder usually gets diagnosed when parents take their child to a doctor with symptoms of anemia. A blood sample is then taken and sent to a lab where it is tested for anemia and abnormal hemoglobin. A test known as hemoglobin electrophoresis helps the doctor identify the problem and its type.sni

Depending on the type and severity of thalassemia, a physical examination might also help in the diagnosis. For instance, a severely enlarged spleen might suggest that the patient suffers from the disorder.sni

Moreover, the treatment options depend on the type and severity of the disease. Blood transfusions, bone marrow transplant , medicines and supplements, removal of spleen or gallbladder are few methods to treat the problem. Besides blood transfusion and medicines, patients should be given a healthy diet.sni

Problems associated with treatment

High cost

Bone marrow transplant can completely cure the disease. After this treatment a patient can live a healthy and normal life. But it is a costly option which most of the patients cannot afford. Those who cannot afford it usually receive blood transfusions on regular basis. Initially, transfusion is done once a month and later every 12 to 15 days.sni

Excessive iron

With every transfusion the patient receives extra iron which can have side effects. Iron can accumulate in the tissues and this can be potentially fatal. It can cause heart arrhythmias (abnormal heart rhythm), and in severe cases such children can die of iron toxicity.sni

Ideally, after diagnosis, parents of patients are advised to get them registered with thalassemia centers. After 15 to 20 transfusions, patients need to get their iron levels checked in the body. This is done through a test called serum ferritin.sni

To get rid of extra iron, a patient needs iron chelation therapy. An injection is given to the patient to help remove extra iron from his body.sni

Access to safe blood

This is another issue faced by patients in the country. Hospitals and thalassemia centers where blood screening is not up to the mark can cause children to acquire diseases like hepatitis C and AIDS.sni

Transfusion-dependent patients can lead a healthy life provided they follow the standard procedure for transfusion. Healthy blood supply, control of infectious diseases, timely removal of iron from the body and regular use of prescribed medicines help patient lead a normal life.sni


Preventing thalassemia, and for that matter any disease, is always better than treating it. Though not completely acceptable in our culture yet, pre-marriage thalassemia test seems to be the best option in preventing the problem. It needs to be done for the sake of our future generations.sni

A thalassemia minor man and woman should not get married as there is a greater chance that their child would be born with the major type. Punjab, Sindh and KPK assemblies have made laws for it. Unfortunately, these laws are not being practically implemented. People do not provide thalassemia test report before marriage. And sometimes they even present fake certificates.sni

Cousin marriages are the main factor that is worsening the problem. If husband and wife are thalassemia minor and want to have a baby, they should get tested soon after conception. They should abort the pregnancy if the report is positive. There are no moral, medical and religious restrictions on this as we have a fatwa for it.sni

There are so many countries like Iran, Egypt and Saudi Arabia who have gotten rid of this deadly disease. Thalassemia is a disease which can be eradicated from Pakistan too. There are a number of committees, clubs and organizations fighting against the disorder. But the first step should be taken by the family. Pre-marriage test should always be done so that we can save our children from a miserable and painful life.sni

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