When you get pregnant, especially for the first time, it is easy to get confused by the vast amount of information that comes your way. From your doctors to your friends and family, everyone has something to tell you. The early discussions that many OBGYNs and midwives have with their newly pregnant patients often contain information regarding genetic testing. There are different types of tests and the reasons for suggesting each test are different. Some specific tests many be suggested based upon your family history and ethnic heritage.
Today, I learned from my mother that a fairly distant relative of mine had been very ill with thalassemia. I had heard about the disease from my midwives the first time I was pregnant, but I cannot remember whether I chose to be tested for it. Thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin. This abnormality causes the destruction of many red blood cells, resulting in anemia.
Thalassemia does not come in just one variety, nor does it affect only one ethnic group. There are two types, thalassemia alpha and thalassemia beta, and each type can be either thalassemia major and thalassemia minor. The classification of major and minor is quite simple to understand, because an individual with thalassemia minor gets the defective gene from only one parent and usually does not develop symptoms (although they are a carrier) and individuals that receive the defective gene from both parents develop thalassemia major and become ill. Individuals of Asian, Mediterranean, and African descent are considered to be at the most risk for thalassemia.
Although thalassemia can be treated with blood transfusions and sometimes with bone marrow transplants, very severe cases or untreated cases can result in a reduced life expectancy of about 20 to 30 years. Thalassemia is just one of many conditions that you will likely hear about as you navigate the tricky terrain of choosing which (if any) genetic screening tests to have during your pregnancy. Make sure that you ask your doctor plenty of questions so that you can make your decision knowing all of the potential risks and benefits.
Photo by puravida on morguefile.com.