Hemophilia Essay

Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those

There are three main types of VWD. Type 1, type 2, type 3, and acquired. According to the National Hemophilia Foundation (.n d.), type 1 VWD is found in 60%-80% of patients. People with type 1 VWD have low levels of von Willebrand factor and may have low levels of factor VIII. Levels of VWF in the blood range from 20%-50% of normal. The symptoms are usually mild (National

The mother feels guilty because her son was born with this disorder which in most cases is inherited. According to the Mayo Clinic in most cases hemophilia is inherited, however nearly 30% of children/adults have no family history of the disorder. The 30% suffer from a genetic mutation. (Staff, B.M. ((n.d.)). Hemophilia. Retrieved September 27, 2016, from

The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. This disorder is where the people who have it will bleed easily and accessibly. Different types of hemophilia are classified by different deficient clotting factors in the blood. Treatments for hemophilia are available, including transfusions of frozen

Haemophilia is a genetic disorder that is passed through generations on the x chromosomes, that affects the clotting factor in the blood and makes patients more prone to spontaneous and injury-resulted bleeding which is usually internal. According to the Haemophilia Foundation Australia (2015), there are over 3,000 cases of haemophilia in Australia, and more than half the cases are in males. The National Haemophilia Foundation (2013) website shows that cases of haemophilia go back to the 2n d century, where Jewish boys who have records of uncontrollable bleeding leading to death in their family do not have to undergo circumcision, also cases in 10th century Arabia show deaths of males after uncontrollable bleeding due to trauma. The first

If a mother is recessive for hemophilia and passes her X chromosome to her son; that son will most likely have hemophilia. Meaning that the rates of hemophilia among males are more common than among females. Reason being is that while a female has two X chromosomes a male only has one. The only chances of a female being hemophilia is both X’s have that gene. If a male has hemophilia and reproduces his daughter will no doubt be at least a carrier for hemophilia. Hemophilia breaks into 3 categories severe, moderate, and mild. About 1% of everyone who has hemophilia will go through severe symptoms (internal bleeding, joint spontaneous bleeding etc.) Moderate is about 1-5 and mild is about the rest. Symptoms of hemophilia include cuts lasting longer, and wounds take longer to close. However in more severe cases, patients can have spontaneous internal bleeding in the joints. Without surgery and the proper procedures, this can lead to death. People who have hemophilia are usually diagnosed within the first year. Doctor’s test patience through taking a blood sample, and seeing how much of factor 8 or 9 there is. Doctor’s also see if there's any history of hemophilia in the

A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire the

As stated the only way the a man could ever get this diseases is if their parents sex cell mutated giving the male child more than one x chromosome. It can greatly affect both the person's physical as well as mental state of being. The amount of chromosome can just be up to two or more, 47XXY/48XXXY, and so on.

“Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn 't clot normally.” (NIH, 2013) Hemophilia is a chromosome – linked bleeding disorder caused by

The reason for this is due to carriers. A female who is heterozygous for hemophilia A (she essentially has a normal X and an X chromosome with a HEMA defect) is considered a carrier. Therefore, if a carrier female mates with a male who does not have hemophilia A, their children will not have hemophilia if they are female. However, if they are male, there is a 50% chance that they will have hemophilia A (Figure 2B).

Hemophilia is a genetic bleeding disorder that slows down the clotting process of one’s blood. There are two types of the disorder: hemophilia A and hemophilia B. Both result in very similar symptoms, however, they are caused by different mutations of genes on the X chromosome. The way in which the disorder is inherited is known as an “X-linked recessive pattern.” Since males only have one X chromosome, one gene mutation is all that is needed in order to obtain hemophilia. On the other hand, females have two X chromosomes meaning that two mutations (on on each X chromosome) are required to inherit hemophilia. For that reason, it’s far more unlikely for females to have hemophilia than it is for males. Specifically, the genes which cause

Hemophilia is an X chromosome disease meaning that it's the gene on the mother's chromosome that would be responsible for her son's condition.

Hemophilia is a rare blood condition in which an individual’s blood cannot clot appropriately to stop bleeding. There are two types of Hemophilia, Hemophilia A and Hemophilia B. This paper will be focusing on Hemophilia A, also known as classic hemophilia. “Hemophilia A is a genetic disorder caused by a missing or defective factor VIII, a clotting protein” (National Hemophilia Foundation, n.d., para. 1). Clotting proteins work with cell fragments called platelets to stop bleeding. “When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding (National Heart, Lung, and Blood Institute, 2013, para.

In general, such carrier females do not bleed excessively, as their other X chromosome, with a gene for normal FVIII (or FIX) production, results in intermediate levels of FVIII (or FIX). However, carrier females have a fifty-fifty chance of passing their X chromosome that bears the hemophilia gene to each child they might have. A son would have an equal chance of being normal or having hemophilia. A girl would have an equal chance of being normal or being a carrier, like her

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. The entire antibody population fights against the blood to prevent the clotting factors from working properly.