Genetic Disorders

Cystic Fibrosis Phenotype Mutation Inheritance Treatment A genetic disorder in which the body has a faulty protein in the lungs. The faulty protein causes the body to produce too much mucus. This mucus makes it hard for a person to breathe. Mutation of the CF gene on chromosome 7. A person needs 2 recessive alleles to show the disorder. There is no cure. Treatments include trying to drain the lungs by breaking up the mucus.

Cystic Fibrosis

Sickle Cell Anemia Phenotype Mutation Inheritance Treatment Individuals produce abnormal hemoglobin protein. Hemoglobin is the part of a red blood cell that carries oxygen. The RBC’s have an abnormal shape. People with this disorder suffer from lack of O2 in the blood, experience weakness, and may develop blood clots. Mutation of the hemoglobin gene on chromosome 11. A person with 2 recessive alleles has the disorder. A person who is heterozygous will have some normal RBCs and some sickle shaped RBCs. There is no cure. People are given drugs to relieve the pain and prevent blood clots.

Sickle Cell Anemia

Hemophilia Phenotype Mutation Inheritance Treatment A genetic disorder in which the individual does not produce a special protein vital to blood clotting. These individuals must be careful to avoid cuts, bruises, etc. Mutation in a gene located on the X chromosome. The disorder is sex-linked. The individual carries the faulty gene on the X chromosome. Therefore, more males tend to have the disorder. These individuals receive injections of blood clotting protein.

Hemophilia

Tay Sachs Disease Phenotype Mutation Inheritance Treatment A genetic disorder in which an individual does not have a special protein to break down fat in the brain. Without the protein, fat builds up causing loss of mental and motor skills. Mutation in a gene located on chromosome 15. A person needs 2 recessive alleles to show the disorder. There is no cure or effective treatment. Patients do not normally live past 5 years.

Tay Sachs Disease Every person of Jewish, Irish, or French- Canadian heritage is advised to be tested.