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CARRIER SCREENING FOR SICKLE CELL DISEASE AND THE THALASSEMIAS

Source: uscgenetics.med.sc.edu
Topic: Sickle Cell Disease
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Sort Desciption: UNIVERSITY OF SOUTH CAROLINA SCHOOL OF MEDICINE DEPARTMENT OF OBSTETRICS AND GYNECOLOGY DIVISION OF GENETICS. Each of us carries a few recessive genes that do not work properly. ...

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Each of us carries a few recessive genes that do not work properly. In order for an individual to be affected by an autosomal recessive condition, they must have two non-working genes, one inherited from their mother and one inherited from their father. Because there are thousands of genes, the likelihood that we would meet and have children with another person who carries the same recessive gene that we do is small. However, that risk increases if we come from the same ethnic group as our partner because people from the same ethnic group share common ancestors, and therefore common genes. In large ethnic groups it is difficult to pinpoint which recessive conditions a person is at risk for, but a few specific risks are known. For example, individuals who have African ancestry are at increased risk to carry Sickle Cell trait and individuals who are from Mediterranean countries (Greece, Italy, Turkey) are at increased risk to carry -thalassemia trait. Both sickle cell disease and the Thalassemias involve problems in how a part of the blood, the hemoglobin, carries oxygen to our body. What if I have a family history of one of these conditions? If you have a family history of one of the conditions listed above, such as a brother, sister, or cousin, then you may have a higher chance of being a carrier. Your specific risk is determined based on how you are related to the person in your family with the condition. If the changes in the gene are known for your ...

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