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A brief guide to thalassemia, a genetic blood disorder

Thalassemia is one of the 80+ diseases/ health conditions for which cord blood stem cell transplant is known to have proven effective. Here’s a short, ‘layman’s guide’ to this genetic blood disorder.

Thalassemia is a genetic blood disorder that inhibits the body’s capacity to produce haemoglobin. A component of red blood cells, haemoglobin helps carry oxygen from the lungs to various body parts. Without it, the oxygen carrying capacity of blood is severely hampered which could lead to adverse effects on one’s health.

Being genetic in nature, thalassemia is associated with certain ethnic groups like Greeks, Turkish, Italians, Middle  Easterners, Southeast Asians, Indians and Egyptians, among others. Let’s try to understand how this disease affects a patient and how it can be treated.

Types of thalassemia

There are two major types of thalassemia – alpha and beta– depending on the exact mutation. This also denotes which factor of the haemoglobin the body is unable to produce.

There are other ways to categorise the disease, too such as major, minor and intermedia to denote the severity of the disease. Major is the most severe form and occurs when both parents have passed on the thalassemia gene. It causes severe anemia, requiring the person affected to get regular blood transfusions. Intermedia is when the person develops anemia but doesn’t require transfusions. Those with thalassemia minor carry the gene for the disorder but do not manifest any symptoms.

Causes

Thalassemia is inherited genetically, i.e it ispassed on from parent to child. A mutation in the genes responsible for production of haemoglobin leads to the condition. It may get passed on from one or both parents. The chances of a person both of whose parents are carriers of this genetic mutation being afflicted by this condition is higher.

Symptoms of thalassemia

Lack of sufficient haemoglobin in thalassemia patients often leads to anemia. Lower oxygen count in the blood results in constant tiredness. Some other common symptoms of the condition include:

Like with all diseases, not every person afflicted by thalassemia would manifest all these symptoms. In some cases, they may be barely noticeable or even absent.

Diagnosis

There are many types of blood tests available to find out whether a person has thalassemia, like the complete blood count andhaemoglobin electrophoresis. Usually, symptoms appear right after the birth, and diagnosis is generally made before the child turns two.

For expecting couples, it isprudent thing to undergo genetic counseling, especially if there is a family history of the condition, or they belong to an ethnic group known to have it. There are also certain tests that can be done during the pregnancy that can determine if the child has thalassemia.

Prevention

Parents-to-be can undergo the test themselves if they are not sure of their thalassemia status. If they test positive, they can consult a genetician for risk assessment.

Management/ treatment

In case of the milder forms of the disease, the consequence is usually limited to continuous fatigue. This can be managed with good dietary practices. Doctors can recommend calcium, vitamins and other supplements to help overcome the difficulty.

The most urgent requirement for those having severe forms of thalassemia is to get regular blood transfusions to compensate for the haemoglobin insufficiency of the body. However, this also leads to excessive iron in the bloodstream. In order to remove it, doctors use chelation therapy which consists of medicines that help flush out heavy metals from the body.

Some patients need spleen removal surgery if it becomes too large.

Of course, cord blood stem cell transplant is another important method for the treatment of thalassemia. This obviously requires the stored cord blood of either the patient or of an immediate family member such as sibling to be available.

It makes sense for would-be parents to consider cord blood banking with a family cord blood bank to be prepared for such unforeseen circumstances. There is an extremely small window of opportunity – the birth of the child- for the cord blood to be collected and stored, and we believe it is an opportunity not to be missed, keeping the long-term health of the baby (and the family) in mind.

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