Thalassemia: What Every Parent Needs To Know About A Devastating Blood Disorder

Thalassemia is a blood disorder in which the body is unable to make normal hemoglobin. Hemoglobin is a protein present in the red blood cells, which carry oxygen to all parts of the body. In thalassemia, the red blood cells containing abnormal hemoglobin are destroyed and the patient becomes anemic. Anemia is defined as an inadequate number of red blood cells in the blood. This lack of hemoglobin and poor oxygen delivery results in the symptoms of anemia.

Thalassemia is an inherited disease, which means it is passed down from parents to children. At least one parent must be a carrier or have the disease, for a child to have thalassemia. If both the parents are carriers, there is a 25 percent chance for their child to have thalassemia. In other words one out of four children will have thalassemia. These statistics merit the use of premarital screening of both the parents for detecting thalassemia gene, especially in the areas where thalassemia is pretty common.

Types Of Thalassemia

The two main types of thalassemia are alpha thalassemia and beta thalassemia, depending on which chains of hemoglobin are defected. In alpha thalassemia, one or more of the alpha globin genes have a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones deleted. It is further divided into beta thalassemia major and beta thalassemia minor. The severity of the symptoms and the prognosis depends on the exact type of thalassemia.

Symptoms Of Thalassemia

The symptoms of thalassemia vary with the severity and type of the disease. Beta thalassemia minor is associated with minimal symptoms and generally does not require any intervention. 

READ Sickle Cell Anemia: Symptoms, Diagnosis And Treatment

Beta thalassemia major is the most severe form of thalassemia and it is often associated with most of the following symptoms.

• Anemia:  Decreased hemoglobin and decreased normal red blood cell count renders the patient anemic. The child has the sign and symptoms of anemia like pallor, shortness of breath, tiredness and failure to thrive.
• Slowed growth rates: Due to anemia, the growth of the child is often retarded. The puberty of the patient is also delayed.
• Infections: Patients with thalassemia have an increased risk of infections. This is especially true if the spleen has been removed because spleen protects a person against infections.
• Bone deformities: In a patient with thalassemia, the bone marrow is defective and can’t make enough blood cells, so, as compensation the bone marrow expands within the bones. This expansion widens the bones. This results in abnormal bone structure, especially in the face and skull. When the bone deformities are noticeable, the disease is usually at its peak.Bone marrow expansion also makes the bones brittle and thin, increasing the risk of bone fractures.
• Enlarged spleen: The spleen normally helps in fighting infections and removing unwanted material from the blood including the damaged red blood cells. In a patient with thalassemia, there are a large number of abnormal or damaged red blood cells. Spleen is ultimately exhausted in these patients after continuously removing a large number of damaged red blood cells. Spleen gets enlarged as a result. Splenomegaly makes the anemia worse and it also reduces the life of the transfused red blood cells. When there is a massive splenomegaly, the surgical removal of spleen becomes mandatory.

Complications And Management Of Thalassemia

Most of the complications of thalassemia are directly or indirectly related to the deposition of excess iron in the body.

Iron Overload

Most patients with thalassemia ultimately get an overload of iron in their body. This overload is either due to the disease itself or due to frequent blood transfusions. When you give a pack of blood to a patient, it also means that you are giving them a pack of iron. This iron ultimately gets deposited in the various organs of the body and results in a condition called secondary hemochromatosis. The deposits of iron mostly cause damage to the heart, liver and endocrine glands. That is why adequate iron chelation therapy is necessary in these patients along with blood transfusions, otherwise patients with beta thalassemia accumulate potentially fatal levels of iron in their body.

Heart Problems

Abnormal heart rhythms and congestive heart failure are associated with severe thalassemia. Mostly, these conditions are due to excessive iron deposition on the heart tissue. The patients are intolerant to exercise and even a mild exertion can cause heart problems.

Endocrinopathies

Due to iron deposition on the pancreas the patients may get diabetes. There is also a chance of thyroid gland and adrenal gland disorders.

Management Of Thalassemia

Management of thalassemia depends on the form and severity of the disease. Thalassemia traits and minor forms of thalassemia usually do not require any treatment.

This is a real challenge for young patients and their parents. Imagine someone being told that their four year old child will need regular blood transfusions for the rest of their life. In developed countries, blood banks are well established and they can provide blood regularly. But in developing countries, parents need to arrange a blood donor regularly to buy a few more months for their child. Unfortunately, thalassemia is much more common in developing countries.

In addition to transfusion, the patients also get iron chelation therapy to remove excess iron from their body. Drugs used for chelation include defuroxime, deferasirox and deferiprone.

Bone marrow transplant provides the last hope to these patients. It has a success rate of 80 to 90 percent but it is associated with limitations like finding a perfect match and transplant rejection.

READ Thrombotic thrombocytopenic purpura (TTP): a rare Blood Disorder

To prevent thalassemia in children, premarital and prenatal screening to detect the carriers of thalassemia trait should be done specially in regions where thalassemia is very common. Awareness should also be raised for blood donations in those areas.