Friday, April 18, 2014

An Understanding Of Sickle Cell Anemia Prevention

By Anita Ortega


Sickle Cell Disease is an inherited disorder of red blood cells, called erythrocytes, and the most common genetic disease in the United States. Normal red blood cells are round and concave in the middle; they flow easily through the bloodstream. Diseased erythrocytes, on the other hand, are sticky and bent into a sickle shape, like the sharp implements that are used to cut through sugar cane. Sickle cell anemia prevention is best discussed with a genetic counselor.

In order for someone to develop the disease, both parents must carry the recessive trait for a specific type of hemoglobin. This trait is called AS. In this case, there is one chance in four that their offspring will inherit the disease. There is also half a chance that they will carry the AS trait and one chance in four that they will neither carry the trait nor have the disease. If one parent has normal hemoglobin, Type AA, and the other has AS, there is half a chance that each child will have the trait but not the disease.

African Americans are disproportionately affected by the disease. One out of every ten or twelve carry the trait and one in 400 or 500 newborns have the disease. What is not commonly known is that the disease affects people from other nationalities as well. The incidence in newborns of Hispanic origin is about half that of the African American population. Other nationalities that are susceptible to the disease include Italy, Latin America, Arabs, Greeks and Asiatic Indians.

If the gene for this disease is recessive, which it is, how did it get spread so widely through certain populations? This is because people who carry the trait have a tolerance to malaria, a deadly parasitic disease transmitted by mosquito bites in certain regions of the world. For a long time, the reason why people who have a selective advantage was unknown.

A recent publication in the scientific journal, Cell, indicates that, finally, the molecular reasons for this are beginning to be unraveled. This is good news for most of the world, half of whom are affected by this deadly disease. It is not, sadly, much help for those affected by sickle cell.

A lot of the symptoms and signs of SCD are common to other forms of anemia. These include dizziness, headaches, extreme fatigue, shortness of breath, pale skin, jaundiced eyes and coldness in the extremities. The condition is also characterized by sudden episodes of debilitating pain throughout the entire body.

A sickle cell crisis also affects the major organs (lungs, liver and kidneys). This, and the widespread pain in the limbs, is caused when the oddly-shaped blood cells block blood flow, causing pain and organ damage. The pain may last for several hours or persist for a week or longer.

All newborns in the United States are routinely tested for AS. This opens the door for early treatment of the disease. At the moment, the only way to prevent sickle cell disease is through genetic counseling and family planning. Research is ongoing to find ways of making it possible for individuals who have the disease to live comfortable and productive lives.




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