Genetic Diseases


A disease that is gradually gaining more and more significance in the world around us today, the dreaded Thalassemia is today a life threatening disease which poses serious dangers to the countless children who are suffering around it all around the world.

Thalassemia InheritanceThalassemia can be defined as a genetic disorder of the blood that is passed from one generation to the other. An inherited form of disease, the occurrence of Thalassemia causes a change in the form of the normal hemoglobin, which is the protein that is contained in the human blood and is responsible for the supply of oxygen to the Red Blood Corpuscles or RBCs in the blood.

The absence of the required amount of Hemoglobin in the human body can cause Anemia, a disease that has life threatening potentialities.

Types of Thalassemia

Before we understand what causes Thalassemia it is important to understand what, exactly are the function of the protein hemoglobin, the different kinds of hemoglobin as well as how they affect the human physiology.

Hemoglobin consists of two different kinds of proteins, which are:

  • Alpha Globin
  • Beta Globin

The disease Thalassemia is caused when there is a disturbance in the production or the distribution of either of these two proteins in the human body. Based on the deformities of the production and distribution of these smaller units of proteins, the disease Thalassemia itself can be of two kinds, which are:

  • Alpha Thalassemia
  • Beta Thalassemia

Again, based on the patient’s genetic background, Thalassemia can be again be divided into a number of types. These include:

  • Thalassemia Major
  • Thalassemia Minor

Thalassemia Major occurs in the cases of patients who inherit the defective gene from both the parents, whereas Thalassemia Minor occurs when the patient inherits the defective gene from only one parent.

Symptoms of Thalassemia

The symptoms of the disease Thalassemia vary in accordance with the type of Thalassemia the patient is suffering from as well as the age and condition of the patient. Thalassemia in its most severe form, which is the Thalassemia Alpha Major affects the Alpha portions of the hemoglobin in the blood and can cause severe problems such as a miscarriage in the cases where the unborn baby suffers from it.

In other cases where the child is born with the symptoms of Thalassemia Major the child can show severe symptoms of Anemia which can crop up in the first year of the baby’s life.

There can be several other symptoms which are associated with the disease. These include:

  • Bone deformities in the face
  • Fatigue
  • Growth failure
  • Liver and spleen swelling
  • Shortness of breath
  • Yellow skin as seen in cases of Jaundice

How to test for Thalassemia

The first test that one needs to undergo for detection of the disease Thalassemia is the spleen test. The presence of an enlarged spleen can indicate the presence of the disease in the human body. After this, a series of different kinds of blood tests are performed under the microscope which can be used to detect:

  • The size of the Red Blood Cells of the blood, which can appear to be extraordinarily small and deformed when surveyed under the microscope.
  • The Complete Blood Count or CBC is to be examined which can detect the presence of Anemia in the body.
  • Hemoglobin Electrophoresis is also conducted on the patient, which can reveal any abnormalities which are associated with the hemoglobin in the body.

In the cases where Alpha Thalassemia is suspected the Mutational Analysis test is performed on the patient’s body which can reveal many more facets of the abnormality of hemoglobin than any other form of blood test.

Treatments involved in Thalassemia

The treatments used for patients suffering from Thalassemia can be extremely expensive, recurring and also long drawn. Most patients are recommended regular transfusions of blood as well as doses of Folate tablets as supplements. However, there are certain aspects which one needs to remember while undergoing treatment for the disease. These include:

  • The patient has to stop iron intake in cases where he or she is undergoing blood transfusions as a cure for Thalassemia. This is because the extra iron intake can result in the building up of extremely high doses of Iron in the body.
  • Another important aspect that a patient who is undergoing blood transfusion needs to keep in mind is that he or she should undergo the special treatment known as Chelation Therapy. Chelation Therapy is basically a treatment through which the extra build up of Iron in the human body can be prevented and the Iron particles can be washed out of the patient’s body in the form of toxins.

In more severe cases, bone marrow transplant is often resorted to as a cure for Thalassemia. This can be observed more frequently in the cases where infants or children are the patients who are undergoing treatment for the illness.

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