What Is Thalassaemia

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Thalassemia is a genetic blood disorder, transmitted to the offspring from their parents. Due to this disease, hemoglobin which is contained in every RBC, is abnormally produced so the RBCs are misshapen and are broken down soon after their formation. This leads to a drop in hemoglobin level and the resulting anaemia needs to be treated with blood transfusion.

Courtesy: Thalassaemia TIF

Thalassaemia Major

An estimated 6,000 to 8,000 Thalassaemia Major children are born in Pakistan every year, although no documentary registry is available. The estimated carrier rate is 5-7%, with 9.8 million carriers in the total population. They do not need blood transfusions themselves but a marriage of two such persons, they may give birth to a child with Thalassemia major, who requires regular blood transfusion for the rest of their life. As a rough estimate, at any given time, more than 120,000 Thalassemia major children may be found in our country, getting incomplete treatment with infrequent blood transfusions and inadequate iron chelation therapy. For optimum treatment every Thalassemic child will need frequent transfusions of screened packed red cells and regular iron chelation therapy.

health centre of thalassaemia
Managing Patients

If we start managing all these Thalassaemia major patients in Pakistan on internationally accepted guide lines, a huge health budget will be required each year, which is out of reach of our health departments and an impossible target to achieve at the present moment. This situation leaves only one alternative – Thalassaemic Awareness and Prevention on national level.

Most of the items used in the treatment of Thalassaemia patients are imported so the cost keeps going up with the passage of time.

health centre of thalassaemia
Birth of Thalassaemic Children

Thalassaemia is preventable. In countries like Cyprus and Turkey where carrier rates were very high and 18% of population carried different genes of haemoglobinopathies, have completely stopped birth of new Thalassaemic children. In Iran, compulsory pre-marriage blood tests and genetic counselling have resulted in very high success rate.

Fatimid Foundation began Chorionic Villus Sampling in year 2015 and have so far conducted more than 280 free CVS tests.



The only way to know if you carry the Thalassaemia trait is to have a special blood test called hemoglobin electrophoresis which can identify the gene. The carriers of thalassaemia minor become anemic or slightly anemic.

A person with the thalassaemia minor/trait has a normal life expectancy. However, heart complications arising from beta thalassaemia major can make this condition fatal before the age of 30 years.

Your body won’t work well if your red blood cells don’t make enough healthy hemoglobin. Genes control how the body makes hemoglobin protein chains. When these genes are missing or altered, thalassaemias occur. Thalassaemias are inherited disorders—that is, they’re passed from parents to children through genes.

People who have thalassaemia trait (also called thalassaemia minor) carry the genetic trait for thalassaemia but do not usually experience any health problems except perhaps a mild anemia. A person may have either alpha thalassaemia trait or beta thalassaemia trait, depending upon which form of beta protein is lacking.

They may include severe anemia and other health problems, such as:
• A pale and listless appearance.
• Poor appetite.
• Dark urine (a sign that red blood cells are breaking down)
• Slowed growth and delayed puberty.
• Jaundice (a yellowish color of the skin or whites of the eyes)
• An enlarged spleen, liver, or heart.

No it is not blood cancer. Thalassaemias are inherited blood disorders that cause the body to make fewer healthy red blood cells and less hemoglobin than normal. Mild or severe anemia can also be present in people with thalassaemias. The two major types of thalassaemia are alpha and beta, named after defects in the hemoglobin protein chains.

This dangerous side effect is known as iron overload. Regular blood transfusions provide thalassaemia patients with the red blood cells they need to survive. Although iron is essential to the body, excess iron can lead to organ failure and death.

The only treatment to combat severe anemia is regular blood transfusions. Regular blood transfusions allow patients with thalassaemia to grow normally and be active. Unfortunately, transfusions result in deadly accumulation of iron in the heart and liver. This iron has to be taken out it the body through medications known as iron chelating agents.

With optimal transfusion and adequate chelation, patients are living longer and having families of their own.

People who have an absence or severe abnormality of only one of their b globin genes have beta thalassaemia minor. This non-life threatening form of the disease causes only mild anemia and does not generally require treatment.

People with severe thalassaemia depend on blood transfusions to give them working red blood cells. Allogeneic bone marrow transplant has a success rate of 80 to 85% to cure thalassaemia major.

Several laboratory tests may be used to help detect and diagnose thalassaemia: Complete blood count (CBC). The CBC is an evaluation of the cells in the blood. Among other things, the CBC determines the number of red blood cells present and how much hemoglobin is in them.

HbH disease can cause mild to severe anaemia and may mean you require blood transfusions during pregnancy. Beta thalassaemia major makes it more likely that you will have complications during your pregnancy.

Complications are common and include heart disease (heart failure and arrhythmias), chronic liver hepatitis, which can evolve in cirrhosis and, rarely, in hepatocellular carcinoma, endocrine problems (hypogonadism, diabetes mellitus, hypoparathyroidism)