Genetic disorder: Sickle Cell Anemia
Specific genetic mutation: Sickle cell anemia is caused by a variant type of hemoglobin, the protein in red blood cells that carries oxygen to the tissues of the body, called hemoglobin S (HbS). HbS is sensitive to deficiency of oxygen. When the carrier red blood cells release their oxygen to the tissues and the oxygen concentration within those cells is reduced, HbS, in contrast to normal hemoglobin (HbA), becomes stacked within the red cells in filaments that twist into helical rods. These rods then cluster into parallel bundles that distort and elongate the cells, causing them to become rigid and assume a sickle shape.
Physical characteristics:The disease is characterized by many of the symptoms of chronic anemia(fatigue, pale skin, and shortness of breath) as well as susceptibility to infection, jaundice and other eye problems, delayed growth, and episodic crises of severe pain in the abdomen, bones, or muscles.
Possible treatment: Infants and young children with the disease are given regular daily doses of penicillin to prevent serious infection. In some cases blood transfusions are given regularly to prevent organ damage and stroke and to relieve the worst symptoms of red blood cell loss. In severe cases bone marrow transplantation has been of some benefit. The drug hydroxyurea reduces the principal symptoms of sickle cell anemia.
Interesting Fact: Sickle cell anemia occurs mainly in persons of African descent. The disease also occurs in persons of the Middle East, the Mediterranean, and India.
Sources:
Specific genetic mutation: Sickle cell anemia is caused by a variant type of hemoglobin, the protein in red blood cells that carries oxygen to the tissues of the body, called hemoglobin S (HbS). HbS is sensitive to deficiency of oxygen. When the carrier red blood cells release their oxygen to the tissues and the oxygen concentration within those cells is reduced, HbS, in contrast to normal hemoglobin (HbA), becomes stacked within the red cells in filaments that twist into helical rods. These rods then cluster into parallel bundles that distort and elongate the cells, causing them to become rigid and assume a sickle shape.
Physical characteristics:The disease is characterized by many of the symptoms of chronic anemia(fatigue, pale skin, and shortness of breath) as well as susceptibility to infection, jaundice and other eye problems, delayed growth, and episodic crises of severe pain in the abdomen, bones, or muscles.
Possible treatment: Infants and young children with the disease are given regular daily doses of penicillin to prevent serious infection. In some cases blood transfusions are given regularly to prevent organ damage and stroke and to relieve the worst symptoms of red blood cell loss. In severe cases bone marrow transplantation has been of some benefit. The drug hydroxyurea reduces the principal symptoms of sickle cell anemia.
Interesting Fact: Sickle cell anemia occurs mainly in persons of African descent. The disease also occurs in persons of the Middle East, the Mediterranean, and India.
Sources:
- "Log in." Britannica School. N.p., n.d. Web. 04 Nov. 2015.