Choose one of these disorders to research online (Progeria Congenetial Hypertric
ID: 296501 • Letter: C
Question
Choose one of these disorders to research online
(Progeria
Congenetial Hypertrichosis
Epidermodysplasia Verruciformis
Lesch–Nyhan Syndrome
Ectrodactyly
Proteus Syndrome
Marfan Syndrome
Cystic Fibrosis
Fragile X syndrome
Hemophilia
Thalassemia
Huntington's disease
Muscular dystrophy)
and write a brief, one page (approx. 250 word) paper about it. The paper should include, what type of mutation causes it (point or chromosomal, include if it is sex linked), which chromosome is affected, the symptoms of the disorder, and if there are any treatments for it. Be sure to cite your sources, a simple web address for each site is fine.
Explanation / Answer
Hemophilia
Hemophilia is a legacy of a bleeding disorder in which a person is deficient or there are low levels of a protein called protein factors and as a result, the blood is not properly formed. This causes excessive bleeding. There are 13 types of clotting factors, and work to help blood clots with these plates. Platelets are small blood cells that are formed in your bone marrow. According to the World Federation of Hemophilia (WFH), one in about 10,000 people has been born from this disease.
There are three forms of Hemophilia A, B and C.
Haemophilia is the most common type of a hemophilia, and this factor is caused by a lack of eighth. According to the National Heart, Lung, and Blood Institute (NHLBI), 8 out of 10 people with haemophilia have hemophilia A.
Haemophilia b, also called Christmas disease, is caused by a factor IX deficiency.
Haemophilia is a small form of C sickness, which is caused by the deficiency of factor XI. People with this rare type of hemophilia often do not experience easily bleeding.
Symptoms:-
blood in the urine
blood in the stool
deep bruises
large, unexplained bruises
excessive bleeding
bleeding gums
frequent nosebleeds
pain in the joints
tight joints
Genetics-
Each person receives two sexual chromosomes from their parents. Women have two X chromosomes. Men have an X and a Y chromosome.
Men receive an X chromosome from their mother and a Y chromosome from their father. Women receive X chromosome from each parent. Since genetic defects which causes Hemophilia, is located on the X chromosome, the father cannot pass the illness on to his sons. It also means that if a man gets the X chromosome with his mother from his mother, then he will have hemophilia. The female with an X chromosome, which has changed genes, has a 50 percent chance of crossing its children, male or female.
A female who is converted to one of its X chromosomes, commonly referred to as "carrier", means that she can give the disease to her children but she is not sick. This is because there are enough smoothing factors from the normal X chromosome to avoid serious bleeding issues. However, carriers who increase the risk of bleeding are often women.
Treatment
Your doctor can treat haemophilia with a prescription hormone. This hormone is called desmopressin, which can be given as injections in your vein. This drug works by stimulating the factors responsible for the blood clotting process.
Your doctor can treat Hemophilia B by infiltrating your blood with donor clotting factors. Sometimes, in synthetic form factors can be given. These are called "recombinant clotting factors".
Your doctor can treat hemophilia c by using plasma infusion. Infusion of the infusion helps to stop bleeding. The deficiency factor responsible for Haemophilia C is available only in medicine in Europe.