About Thalassemia

Thalassemia is a disease resulting from malformed and short-lived red blood cells. There is less hemoglobin in the blood and fewer than normal red blood cells, so there is not enough oxygen being distributed throughout the patient's system, leaving the person fatigued and weak. It is a genetically carried disease that occurs mostly in people of Mediterranean origin. There are two forms of this disease: Thalassemia major, and Thalassemia minor.

Thalassemia major

This form of thalassemia is also sometimes called Cooley's anemia. Thalassemia major usually makes its presence known from the time the individual is an infant, or at least within the first two years of life. There is an enlarged spleen, anemia, fever, and a condition known as "failure to thrive." There can also be skeletal deformities resulting from the expansion of the patient's bone marrow, as well as the increased chance of infection. When this disease is severe, the child's growth will be stunted and puberty delayed. Urine appears unusually dark colored. Bones will be brittle, causing the individual to fracture bones easily. Spinal compression can ensue if repeated bone fractures in the back occur.

The patient suffering from thalassemia major will need frequent transfusions, in order to keep the blood supply properly oxygenated. Skin becomes freckled and takes on a bronzed appearance due to iron deposits in the skin as the red cells are destroyed. It may appear yellowish or jaundiced. This supply of excess iron also deposits itself in organs including liver, pancreas and heart which develop a fibrous quality and can not continue to function properly. Some possible cardiac conditions are congestive heart failure, arrhythmia and tachycardia.

The thalassemia patient's spleen may become so large that it crowds other organs, causing breathing problems, fatigue, headache, loss of appetite and stomach pain. The individual may become irritable, short of breath, and they might appear as though their abdomen is distended.

Thalassemia minor and minima

In the minor form of thalassemia, the changes to red blood cells are not as severe, and anemia is in a milder form. In thalassemia minima, symptoms may be barely noticed.

Testing for thalassemia

For prospective parents at risk for carrying the thalassemia gene, genetic counseling is recommended.

Prenatal testing for thalassemia can be done through amniocentesis or fetal blood sampling. For those at risk to bear a child with this disease, there are also measures that can be taken, through assisted reproductive technology, in order to prevent this disease.

When any of the named symptoms occur, thalassemia can be determined through a combination of blood tests and genetic profiling.

Thalassemia treatment

A person with thalassemia must be especially careful in daily life. It's important to avoid excess intake of iron, so these patients must not take a multivitamin containing iron. However, the doctor may prescribe supplementary folic acid to help build stronger red blood cells. For bone strength, the individual will need plenty of calcium, vitamin D and zinc.

The doctor will advise the patient in keeping as free as possible of infection, and on keeping up with regular vaccinations against illness. A chelating medication will normally be given. This medication binds the excess iron with a chemical to decrease the toxic effects of the iron.

With good medical care and supportive family and friends, the thalassemia patient can live a long and productive life.

Sources:

Mayo Clinic
Discovery Health
Signet/Mosby Medical Encyclopedia
National Institute of Health