Do You Have the Silent Disorder Thalassemia?

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Planning to tie the nuptial knot? Go for a simple HbA2 test prior to it. Are you just married? Go for a simple HbA2 test prior to planning a baby.

Getting that simple HbA2 test can save a lot of stress and agony later on. It helps detect if you are a carrier of a silent disorder, Thalassemia. It checks what thalassemia trait you have.

The Indian statistics on thalassemia is alarming. It reveals that thalassaemia major affects over 1, 00,000 people with over 8,000 reported thalassaemia births taking place every year.

So, what is the disorder all about?

Thalassemia is an inherited disorder that affects the production of hemoglobin and causes anemia. Hemoglobin is the protein present in our red blood cells. It carries oxygen. Oxygen from the lungs is carried to the body's tissues and carbon dioxide from the tissues is brought back to the lungs.

In the case of thalassemia, the body produces an abnormal form of hemoglobin. This results in excessive destruction of red blood cells leading to severe anemia. The disorder is passed from parents to children through genes. It is caused by variant or missing genes that affects how the body makes hemoglobin.

How is Thalassemia Minor different from Thalassemia Major?

Every person can be either of the following – Normal, Thalassemia Minor or Thalassemia Major. People with a Thalassemia trait in one gene are known as carriers or are said to have thalassemia minor. Thalassemia major occurs when a child inherits two mutated genes i.e. one from each parent. Treatment for Thalassemia major involves regular blood transfusions.

What are the risk factors?

If one of the parent is a carrier for thalassemia, the offspring may develop “thalassemia minor”. Usually there are no symptoms seen.

Each child born to parents who are both thalassaemia carriers has a:

  • 25% chance that they will be neither carriers, nor have the disease
  • 50% of being a symptom-free carrier
  • 25% of having the more severe thalassaemia major

Alpha & Beta Thalassemia

The alpha and beta refer to which haemoglobin gene is affected, and which of the haemoglobin chains is faulty. Alpha thalassemia is the result of changes in the genes for the alpha globin component in hemoglobin. Beta thalassemia is when the body has a problem producing beta globin.

How is Thalassemia diagnosed?

Diagnosis for thalassemia includes a complete blood count (CBC) along with some special hemoglobin tests. With a CBC test, the amount of hemoglobin and different kinds of blood cells are determined. People with thalassemia have fewer healthy red blood cells. Via a hemoglobin test, in thalassemic patients problems with the alpha or beta globin protein chains get detected.

Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. Along with being very anemic they also have problems such as :

  • Poor Appetite
  • Enlarged Organs (Liver, Spleen)
  • Paleness
  • Frequent Infections
  • Jaundice
  • Bone Problems

Is there a treatment for Thalassemia?

Yes, it is a treatable disorder and one that needs a lot of your patience, time and money. It can be well-managed with regular blood transfusions and chelation therapy. In severe forms of thalassemia there is requirement of frequent blood transfusions, almost every few weeks.

A bone marrow transplant is also a possible cure in which the affected bone marrow is replaced with bone marrow donated from a healthy donor. The new bone marrow begins to produce healthy blood cells. The transplant also comes with its own set of risks.

Be aware!

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