Thalassemia

An inherited blood disorder, thalassemia, is recognized by minimal red blood cell production and smaller amounts of hemoglobin than one normally has in the body. With this reduced amount of hemoglobin and red blood cells, oxygen cannot be carried through the body properly. These two factors eventually leave a sufferer exhausted and worn out, creating an anemic condition.

There are varying degrees of thalassemia and the severity of the condition will determine how it will affect your body. If you suffer from a severe case of thalassemia you will often need to get a blood transfusion regularly. If it is a mild form, you may not need treatment at all. Besides being tired, thalassemia can cause other symptoms, such as irritability, shortness of breath, a decreased growth rate, weakness, skin pallor, urine that is dark yellow in color, a jaundiced appearance, deformities of the facial features, and a protruding belly. You cannot always detect thalassemia at birth. Some cases take up to a couple of years to be noticed.

Thalassemia is a hereditary condition. There are two types, alpha- and beta-thalassemia. In addition to thalassemia being a hereditary condition ancestry plays a part as well. It is found that most people who have this condition are of Greek, Middle Eastern, African, Italian and South Asian descent. Chinese, Filipino, and Southeastern Asian are most commonly afflicted with alpha-thalassemia.

There are some complications that can develop as a result of thalassemia. These complications would include infection, bone deformities, splenomegaly, iron overload, difficulties with heart functioning, and a decreased growth in children.

Diagnostic testing in expectant mothers can determine the severity and presence of thalassemia in the unborn child. This testing is done by the use of an amniocentesis, sampling of the unborn baby’s blood and/or a chorionic villus sample. Once your baby is born a simple blood test is all that is needed to determine the condition.

It is important to take your child to his or her pediatrician if any of the above symptoms are noted. There are several things that you can do to help the thalassemic condition. Some of these measures would be to eat a healthy diet and maintain adequate nutrition, prevent infection with avoidance of others who are sick and frequent washing your hands. Other helpful ideas are to avoid too much iron in the diet or supplemental form.

Unfortunately, because thalessemia is a genetic condition, there is no cure and no precautions that can be taken that will reduce the risk of your child being born with the condition. Prenatal genetic counseling can help determine if your child may inherit the condition and consistent medical care after birth can help to reduce the negative medical effects and improve overall health.

RESOURCES

National Heart Lung and Blood Insitute: What are Thalassemias

Northern California Comprehensive Thalassemia Center

Genome.gov: Learning about Thalassemia

Center for Disease Control and Prevention: what should you Know About Thalassemia