Donor Getting Screening
Current list of genetic screening tests performed on our donors:
THALASSEMIA
Regardless of ethnicity, all donors undergo a blood test called a complete blood count. This is a screening test that looks at the size, shape and amount of a person’s blood cells. This type of screening will detect some, but not all, individuals who carry alterations in their hemoglobin that could cause the genetic conditions alpha-thalassemia or beta-thalassemia in their offspring. The thalassemias are autosomal recessive genetic disorders that are part of a spectrum of diseases called the hemoglobinopathies, a group of illnesses that affect hemoglobin. Hemoglobin is responsible for carrying oxygen to the cells of our bodies. Individuals affected with thalassemia generally have a severe anemia, and may require frequent blood transfusions and other medical surveillance and intervention over the course of their lifetimes. Some types of thalassemia may result in a shortened lifespan, or may result in fetal demise or death in infancy.


The following carrier screening is performed on donors with any African ancestry:
SICKLE CELL DISEASE
Sickle Cell Disease (SCD) is an autosomal recessive condition that is more common among individuals of African ancestry. Sickle cell disease is part of a spectrum of disorders called the hemoglobinopathies, a group of illnesses that affect hemoglobin. Hemoglobin is responsible for carrying oxygen to the cells of our bodies. Among individuals of African descent, the carrier frequency is 1 in 10. Individuals affected with SCD can have painful episodes of joint and bone pain, and are at increased risk for strokes, infections and organ damage. All donors with African ancestry are screened to see if they are carriers for sickle cell disease with a diagnostic laboratory test called hemoglobin electrophoresis. Hemoglobin electrophoresis can detect many, but not all, clinically significant differences in a person’s hemoglobin.

Other genetic testing that may have been performed on donors:
CHROMOSOME ANALYSIS
Chromosomes are found in the cells of our bodies, and they are the packages for our genes. Genes contain the genetic information that directs how our bodies will grow, develop and function. Typically, an analysis of human chromosomes (also called a karyotype) reveals a total of 46 chromosomes per cell. A chromosome analysis will only give us information about the number and structure of the chromosomes present. It will not give us information about specific genes. Infrequently, healthy and normal individuals carry chromosome rearrangements that are referred to as balanced translocations. Balanced translocations typically do not cause any health problems for the person with the translocation. However, people with balanced translocations are at increased risk for infertility, miscarriage and more serious chromosome problems in their children. Approximately 1/400 individual in the general population are carriers of a balanced rearrangement of their chromosomes.

Any chromosomal abnormalities are infrequent and expensive to test, all the donors are not tested for their chromosome. However if a patient is willing to test the chromosome of a donor SAB can provide the facility at an extra cost.

Some of our donors have undergone a chromosome analysis. Please contact the Genetics Department if you have questions about a specific donor and whether or not that donor has had a chromosome analysis.