The genetic disorder that I did is called sickle cell disease, while it is also known by the names sickle-cell anaemia, and drepanocytosis. Sickle cell disease is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.) The sick cell then decreases it results in a risk of a variety of complications, this all happens because of the mutation in the haemoglobin gene. Hemoglobin is a protein inside red blood cells that carries oxygen. Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin S distorts the shape of red blood cells, especially when exposed to low oxygen levels .The distorted red blood cells are shaped like crescents or sickles. These fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also clog more easily in ...view middle of the document...
In heterozygous people, who have only one sickle gene and one normal adult haemoglobin gene, it is referred to as "HbAS" or "sickle cell trait". Sickle cell anemia is inherited from both parents. Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East. Someone who inherits the hemoglobin S gene from one parent and normal hemoglobin (A) from the other parent will have sickle cell trait. People with sickle cell trait do not have the symptoms of true sickle cell anemia. Sickle-cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color, and other physical traits. The types of haemoglobin a person makes in the red blood cells depend on what haemoglobin genes are inherited from his parents. If one parent has sickle-cell anaemia (SS) and the other has sickle-cell trait (AS), there is a 50% chance of a child's having sickle-cell disease (SS) and a 50% chance of a child's having sickle-cell trait (AS). When both parents have sickle-cell trait (AS), a child has a 25% chance (1 of 4) of sickle-cell disease (SS), as shown in the diagram. Nationally 1 in 375 African Americans are living with sickle cell disease.1 in 1100 to 1400 Hispanics are living with sickle cell disease.1 in 58,000 Caucasians are living with sickle cell disease. Sickle cell trait, the healthy carrier state for sickle cell disease, occurs in approximately 1 in 12, or 8 percent of African Americans. It has a homozygous recessive genotype (rr) and the phenotype is that it displays full sickle cell anemia. Heterozygous genotypes (Rr) would display half the characteristics of sick cell anemia as the phenotype. Treatment They should take supplements of folic acid (essential for producing red blood cells) because red blood cells are turned over so quickly. Antibiotics and vaccines are given to prevent bacterial infections, which are common in children with sickle cell disease. Blood transfusions are used to treat a sickle cell crisis. They may also be used on a regular basis to help prevent strokes. Besides Bone marrow or stem cell transplants there is no other way to cur this disease.