The most common genetic disease in the United States is an erythrocyte disorder known as Sickle Cell Disease (SCD). It is a form of anemia in which the red blood cells become bent like a scythe, instead of round and concave in the middle. This means they can become stuck in piles in the blood stream, where they cause problems. Because it is an inherited disorder, sickle cell anemia prevention should be discussed with a genetic counselor, who can outline the available options.
Both parents must carry the sickle cell trait for hemoglobin (Type AS) for the offspring to inherit the disease. If this is the case, there is a 25% chance that the child will have the disease, 50% chance that he or she will carry the trait and a 25% chance that they will have neither the trait nor the disease. If one parent has normal hemoglobin (Type AA) and the other has Type AS, there is a 50% chance that each child will carry the trait, but they will not get the disease.
People who come from warm climates are more likely to be affected by SCA. It affects people of American African origin the most, with one in ten newborns carrying the AS trait and one in roughly 450 deliveries resulting in an infant with the disease. Hispanic newborns are half as likely to develop the trait and the disease. Other nationalities that are affected are people from Asiatic India, the Arab countries, Greece, Italy and Latin America.
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.
In 2011, a paper was published in the prestigious scientific journal, Cell, that shed light on the molecular mechanisms underlying this curious situation. While this is great news for that half of the world for which malaria is a menace, it does little to comfort those who suffer from SCA.
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.
Episodes of severe pain are typical of a sickle cell crisis, in which the scythe-shaped erythrocytes stick together and restrict blood flow to the major organs (kidneys, liver, lungs) and to the musculoskeletal system. These episodes can last for a matter of ours or go on for a week or more.
Today, all neonates in the USA are tested for AS at birth. This allows early access to treatment. For now, the only way to prevent SCA is for prospective parents to be tested for the trait and discuss the results with a genetic counselor. A genetic counselor is trained to discuss the options the would-be parents have, given the results of the blood tests.
Both parents must carry the sickle cell trait for hemoglobin (Type AS) for the offspring to inherit the disease. If this is the case, there is a 25% chance that the child will have the disease, 50% chance that he or she will carry the trait and a 25% chance that they will have neither the trait nor the disease. If one parent has normal hemoglobin (Type AA) and the other has Type AS, there is a 50% chance that each child will carry the trait, but they will not get the disease.
People who come from warm climates are more likely to be affected by SCA. It affects people of American African origin the most, with one in ten newborns carrying the AS trait and one in roughly 450 deliveries resulting in an infant with the disease. Hispanic newborns are half as likely to develop the trait and the disease. Other nationalities that are affected are people from Asiatic India, the Arab countries, Greece, Italy and Latin America.
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.
In 2011, a paper was published in the prestigious scientific journal, Cell, that shed light on the molecular mechanisms underlying this curious situation. While this is great news for that half of the world for which malaria is a menace, it does little to comfort those who suffer from SCA.
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.
Episodes of severe pain are typical of a sickle cell crisis, in which the scythe-shaped erythrocytes stick together and restrict blood flow to the major organs (kidneys, liver, lungs) and to the musculoskeletal system. These episodes can last for a matter of ours or go on for a week or more.
Today, all neonates in the USA are tested for AS at birth. This allows early access to treatment. For now, the only way to prevent SCA is for prospective parents to be tested for the trait and discuss the results with a genetic counselor. A genetic counselor is trained to discuss the options the would-be parents have, given the results of the blood tests.
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