Hemophilia is an inheritable bleeding disorder that almost always affects males and is caused by either non-existent or low levels of clotting proteins called factors. There are 13 different kinds of these factors, called coagulation factor and when they are combined with platelets and fibrin, they create a clot which stops bleeding. They are labeled I through XIII and it is the lack of VIII, IX, or XI factors that cause the disorder. If even one of these factors are missing or present but at low levels, this can cause blood clotting problems and a proper clot will not be able to form. This genetic disorder is a result of the change or inheritance of genes from the mother or father in the womb.
Not only this, but we need to know there are 2 types of hemophilia, hemophilia A, and hemophilia B. To begin, lets find out how Hemophilia A and B are different. Hemophilia A is more common than B, but they both have similar symptoms and treatments. 1 in 5,000 males worldwide are born with hemophilia A and 1 in every 20,000 has hemophilia B (“Hemophilia”). Hemophilia is an X-Linked recessive pattern, which means it is passed down from a mother, who is a carrier of the trait, to a son, and each of the sons would have 50% chance of getting hemophilia.
Cystic fibrosis is the most common inherited fatal disease of Caucasians, occurring about once in every 2500 births. If both parents carry the gene responsible for the disease, they have a one-in-four chance of having an affected child. In 1989, the gene responsible for cystic fibrosis was identified on chromosome 7 (out of 23 chromosomes). Since that time more than 200 different mutations in the cystic fibrosis gene have been described, and tests have been developed to detect the most common alterations. These tests can identify unaffected carriers of the disorder.
Without myelin, brain cells die, which in turn causes the nerves in the brain and other parts of the body to not work properly. People with this disorder also have an abnormal presence of globe-shaped cells that usually contains two or more nucleus called the globoid cells. The disease has the possibility to develop later in life but it is mostly present in infants. There is no cure for this disease as of the moment, which makes it very deadly; and infants having this disease will have a high chance of dying before reaching two years old. Krabbe disease is a genetic disorder, meaning the person with the disease got it from his or her parents.
The pain develops because sickle-shaped red blood cells block the flow through tiny blood vessels to your abdomen, joints, and chest. These episodes of pain that occur periodically are called crises. Some patients diagnosed with sickle cell anemia only experience pain a few times in a year, whereas; others can experience various amounts of crises a year. Sometimes if the pain is severe patients may be hospitalized. The pain can also occur in the bones as well.
Hemophilia occurs when the gene to produce clotting factor does not work correctly. Without the proper amount of clotting factor, bleeding occurs easily. Hemophilia is an inherited disorder in about two thirds of the cases. About one third of the cases of hemophilia occur due to spontaneous changes in the gene or mutations. The presence of a mutated gene may not be noted until a woman with no family history of hemophilia has a son with the disorder.
This disease is not as rare as one would think about one in 40 people unknowingly carry this disease (Spinal Muscular Atrophy). SMA is a degenerative disease. The late... ... middle of paper ... ... the leading killer of infants between one month and one year of age. The cause of SIDS is unknown but it accounts for about 40% of infant deaths in the U.S. (William 14-15). Approximately 2,500 kids die from SIDS each year in the United States.
Normally, red blood cells live for about 120 days before new ones replace them.People with sickle cell conditions make a different form of hemoglobin A called hemoglobin S (S stands for sickle). Red blood cells containing mostly hemoglobin S do not live as long as normal red blood cells (normally about 16 days). They also become stiff, distorted in shape and have difficulty passing through the body's small blood vessels. When sickle-shaped cells block small blood vessels, less blood can get to that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged.
Sickle cell anemia hurts many people today in fact it hurts about 72,000 Americans. But some doctors are finding cures for this inherited disease. This disease causes mainly strokes and fever. With this disease a stroke is not predictable, a stroke can happen as early as a one month old as a baby. It can hurt a person really bad because it causes them to not be able to do many things like can't play sports, and things that gets your heart pumping because if the red blood cells gets clogged up it can causes a stroke because oxygen can't flow.
Hereditary spherocytosis not only affects the red blood cells but the spleen as well. It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?” Hereditary spherocytosis is a disorder in the membrane of a red blood cell that causes the red blood cell to be shaped like spheres, instead of flat discs (Wint Carmella).