Family History & Sickle Cell Anemia
Sickle cell anemia is a genetic disease that is only contracted when both parents pass the defective gene to their child. Because of the genetic link, it is important that people learn about their family medical history to determine whether they---or future generations of their family---may be at risk.-
What is Sickle Cell Anemia?
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Sickle cell anemia is the most serious of a suite of diseases caused by poor hemoglobin in the blood stream. Hemoglobin is responsible for carrying oxygen through the blood, so malfunctioning hemoglobin can lead to brain cell damage and even strokes. People afflicted with sickle cell anemia also often have respiratory difficulties and are more susceptible to a host of infections.
Genetics
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Sickle cell anemia---as well as other less threatening sickle cell diseases---results from a genetic mutation. Scientists believe the sickle cell genetic mutation may have originated in areas plagued by malaria, since people with the sickle cell trait cannot contract malaria.
The trait is recessive, so a child would need to inherit the gene from both of his parents to be afflicted with sickle cell anemia. Parents are considered "carriers" when they have one sickle cell gene, though carriers do not have the disease themselves and may have no knowledge that they are carriers. When two parents are carriers, they have a 25 percent chance of having a child with sickle cell anemia. They have a 50 percent chance of having a child who is a carrier and a 25 percent chance of a child with no sickle cell genes.
Affected Populations
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Though anyone can contract the disease, certain populations of people are at much higher risk. People descending from Africa, Spain, the Mediterranean, the Middle East and India are at increased risk. In the United States, blacks and Hispanics are the highest risk groups. These groups are at greater risk because of the prominence of the sickle cell genetic trait in their family lineage.
Long-Term Prognosis
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Sickle cell anemia is life-threatening; however, the estimated lifespan of an afflicted person has gone up thanks to recent medical advances. Today, people with sickle cell anemia can increase life expectancy if they monitor their disease carefully and take preventative medication, when possible.
Tracing Family Medical History
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Most states routinely screen newborns to determine whether they have the disease. Parents can help prevent sickle cell anemia, though, by undergoing genetic testing to determine whether they are carriers prior to conceiving a child. Similarly, fetuses can be tested for the disorder while in the womb.
The government recognized the importance of tracing family medical histories in order to help prevent genetic diseases, such as sickle cell anemia. The Surgeon General's Family History Initiative aims to encourage families to talk to their living family members about chronic medical problems they may have and to record this data for future generations.
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