Hemophilia

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).

However, there is a fifty percent chance that an offspring will be a carrier for the disease. It also occurs in many families with no history for Canavan disease before. Canavan disease is included in a group of disorders called leukodystrophies. Leukodystrophies, like Canavan disease, affect the nerve covering myelin by way of degeneration. However, Canavan disease also has its own symptoms, making it different from other leukodystrophies.

Progeria is not usually passed down in family. Children with Progeria often suffer from symptoms typically seen in elderly people (Davis1). People inherit the disease only one copy of the LMNA gene is enough to cause the disease because it is an autosomal dominant gene. The Progeria Research Foundation was created in 1999. Progeria does have parallels with normal ageing; at least in one key aspect how out blood vessels deteriorate.

Hemophilia Hemophilia is a genetic blood disease, which is characterized by the inability of blood to clot, or coagulate even from minor injuries. This disease is caused by an insufficiency of certain blood proteins, called factors, that participate in blood clotting and often by sudden gene mutation. Therefore, with the absence of factors, the blood clotting process is prolonged. There are different types of hemophilia, hemophilia A and hemophilia B for example. Hemophilia A , the most common form is caused by the lack of factor VIII.

Doctors in medieval times were familiar with it as well. In 1803, a Philadelphia doctor published the first description of hemophilia in the United States. But it was not until 30 years later that hemophilia became widely recognized. Hemophilia later developed a reputation as the "royal disease" because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe. About eighty percent of all cases of hemophilia have an identifiable family history of the disease; in other instances, it may be attributable to a spontaneous mutation.

Hemophilia carried in a recessive X-linked pattern in the X chromosome. Specifically, hemophilia A is found in the F8 gene, while, hemophilia B is found in the F9 gene. If a male has an X chromosome carrying the faulty gene then the male will have Hemophilia. However, if a female has the faulty gene she will only carry the disease, unless, both her father and her mother have the faulty gene. Women don’t usually have hemophilia because they have enough normal clotting factors in their unaffected X chromosome.

Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood.

If a male has hemophilia, he will have normal sons and all of his daughters will be carriers of the hemophilia disorder because all he can pass on is the defective X-chromosome. Males mostly have hemophilia, but women can also have hemophilia. This is extremely rare though because two defective X-chromosomes would be needed. In fact, the first proven case of women having hemophilia was not until the 1950’s (Bornstein 89). Female carriers are also at risk.

As mentioned earlier, Alice Wexler’s mother, Leonore, is diagnosed with Huntington’s disease while she is in her 50s. Huntington’s disease is a genetically transmittable disease where nerve cells in certain parts of the brain deteriorate ("Huntington's Disease"). There is no cure for the disease, but there are certain methods of treatment that can help slow down the progression of the disease ("Huntington's Disease"). Ultimately, this disease can lead problems such as loss of speech, memory, and even the ability to walk ("Genes and Human Disease"). Despite the lack of a cure for the disease, scientists have discovered the genetic defect that causes it.

Fanconi anemia (FA), named for Swiss pediatrician , Guido Fanconi, is one of the inherited anemias that lead to bone marrow failure. Though considered primarily a blood disease, it may affect all systems of the body. Many patients do not reach adulthood. FA patients are usually smaller than average. FA usually revels itself when children are between the ages of 3 and 12, but in rare cases no symptoms are present until adulthood.