Dominant and recessive autosomal linked diseases PEDS exam 2

Cystic fibrosis

CF is an autosomal recessive gene inherited from both parents and is inherited as an autosomal recessive, not autosomal dominant, trait. CF is found primarily in Caucasian populations. An autosomal recessive inheritance pattern means that there is a 25% chance a sibling will be infected but a 50% chance a sibling will be a carrier.

aplastic anemia

Drugs, such as chemotherapeutic agents and several antibiotics (e.g., chloramphenicol), can cause aplastic anemia. Injury, deficient diet, and congenital defect are not causative agents in acquired aplastic anemia.

sickle cell anemia

Sickle cell anemia is inherited in an autosomal recessive pattern. If both parents have sickle cell trait (one copy of the sickle cell gene), then for each pregnancy, a 25% chance exists that their child will be affected with sickle cell disease. With each pregnancy, a 50% chance exists that the child will have sickle cell trait. Percentages of 75% and 100% are too high for the children of parents who have sickle cell trait. Sickle cell disease is characterized by the replacement of adult hemoglobin with an abnormal hemoglobin S.

hemophilia

X-linked recessive inherited disorder in which a blood-clotting factor is deficient The inheritance pattern in 80% of all of the cases of hemophilia is X-linked recessive. The two most common forms of the disorder are factor VIII deficiency, hemophilia A or classic hemophilia; and factor IX deficiency, hemophilia B or Christmas disease. The inheritance pattern is X-linked recessive. The disorder involves coagulation factors, not platelets, and does not involve red cells or the Y chromosomes.