Thalassemia is one of a number of detectable genetic disorders that could be eliminated as part of a breeding program to improve the quality of the human species. Simple blood tests (on the order of those that are still required in some states) can detect whether a person is a carrier for the genetic defect responsible for the disorder, which will hopefully encourage carriers to refrain from breeding or even abort potentially defective fetuses.
However, the absence of premarital blood test requirements and the inaction of negligent doctors stand in the way of removing this genetic impairment from the human genome.
What Is Thalassemia?
Thalassemia is a genetic defect in which the body is unable to correctly produce one of the proteins associated with the hemoglobin molecule, which is responsible for the major chemical actions performed by red blood cells, namely carrying oxygen to the body and facilitating the removal of carbon dioxide as dissolved carbonate molecules. There are two different proteins that make up the hemoglobin unit, known as the alpha protein and the beta protein. People who are unable to produce the alpha protein are described as having alpha thalassemia, while those who cannot produce the beta protein are described as having beta thalassemia.
How Will I know if I Am at Risk?
Unlike some genetic disorders, thalassemia can appear in minor forms that are relatively imperceptible to the sufferer. A person with mild thalassemia may be indistinguishable from a person who is short-winded for other reasons, and the person may never be diagnosed. This means that unlike other genetic disorders, you will not necessarily know that you have a family history of thelassemia.
Some genetic heritages are more likely to have thelassemia than others. Persons of Southeast Asian, Indian, Chinese, or Filipino heritage are more likely to have alpha thelassemia. Persons of Mediterranean, Asian, or African ancestry are more likely to have beta thelassemia, but these conditions affect persons of other ethnicities as well.
The only way to know if you are a carrier for thalassemia is to have a blood test that screens you for this genetic condition.
My Doctor Didn't Screen Me
Doctors who are counseling you before you decide to have children, whether obstetricians, GPs, or specialist genetic counselors, should encourage you to get tested for thalassemia, especially if you belong to one of the ethnic groups listed above. If your doctors fail to advise this, they may be guilty of medical negligence if your child is born with thalassemia. Once your child is born and diagnosed, you are looking at a lifetime hemmed around by serious restrictions for your pride and joy. Your doctor should take partial responsibility and contribute toward the lifetime of expensive care. Most doctors will not do this, so it is necessary to file a wrongful birth lawsuit.
