Sickle Cell Disease Information
What is Sickle Cell Disease?
Sickle cell disease, often called sickle cell anemia or just “sickle cell”, is an inherited condition that affects hemoglobin within the red blood cells. The presence of sickle hemoglobin (HbS) leads to the formation of crescent or sickle-shaped cells that are rigid and sticky and which tend to occlude (clog or close up) small blood vessels. Depending on the organ involved, this occlusion leads to episodes of pain, death of tissue and serious complications.
Sickle cell disease is seen predominantly in the black population
but is also seen in people of other ethnic groups. These ethnic
groups include individuals from parts of the Middle East, Central
India and countries bordering the Mediterranean Sea, especially
Italy and Greece.
There are effective treatments available to help relieve the
symptoms of sickle cell disease, but in most cases there is no
cure. People affected by this disease need regular medical care
What is Testing and Screening?
A blood test is needed to tell if a person has sickle cell disease or if he/she is a healthy carrier of the sickle cell gene (sickle cell trait). A blood sample is taken and examined in the laboratory using one or more of several specialized tests and a diagnosis is made. These tests are very accurate and reliable and some can be used to detect sickle cell disease accurately even in newborn babies. The Center conducts some of these tests at no charge as a community service. Results are reported to the individual or to any physician requested by the individual. All results are held in strict confidence and will not be released to any person or agency without authorization by the person tested.
What is Genetic Counseling?
Genetic counselors are health-care professionals who are specially trained to be able to use medical test results to analyze the chances of a couple having a child with a genetic disease – in this case, sickle cell disease. Counselors do not tell the prospective parents whether they should or should not have a child; rather, they try to be sure that the couple understands their risks and assist them in making informed decisions about having children. All genetic counseling is strictly confidential.
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