Hemophilia

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

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

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

Hemophilia is a possible cause of unexpected bleeding during surgery. This paper will discuss important topics related to hemophilia, including pathology, risk factors, signs and symptoms, and treatment.

Hemophilia A is classified as a hereditary blood disorder (NCBI, 2011), and is caused by a lack of blood clotting protein, known as factor VIII (NCBI, 2011). The specific gene that codes for factor VIII is known as the HEMA gene (NCBI, 2011). Factor VIII is mainly synthesized in the liver (NCBI, 2011). Any lack of factor VIII

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

Since hemophilia involves excessive bleeding, it is important to treat right away. The main method of treatment is known as “replacement therapy.” Depending on the type of hemophilia one has (A or B), either coagulation factor VIII or IX would be dripped into the vein to replace deficient or mutated factors. These

Hemophilia A is distinguished by extreme bleeding into soft tissues of the body known as hematoma, and bleeding into joint spaces known as hemarthroses. Hemarthroses lead to severe condition known as hemarthropathy. Repeated episodes of hemarthroses are very common to this disease. The severity of hemophilia A symptoms is directly proportional to factor VIII blood level and is classified as mild, moderate and severe.

Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.

Currently there is no cure for hemophilia. But with clotting factor infusions and inclusion in support groups, most patients live full and relatively healthy lives. Scientist are always looking for a new cure according to La Kelley Communications (LA Kelley Communications, n.d), and they believe the answer lies in gene therapy. Potential treatment includes taking genes with the correct directions for making clotting factors and inserting them into the cells of a person with hemophilia. Scientists believe the new gene will give the correct directions to the body to start producing high levels of clotting factors, causing the person with hemophilia to develop successful blood

Family history of this disorder will help to determine the necessary diagnostic testing needed. “A clotting test, called an assay, will determine the type of hemophilia and its severity” (National Hemophilia Foundation, n.d., para. 10). A clotting test will require blood to be drawn and sent to the lab for analysis. Treatments for hemophilia include medications that help replace deficit or missing clotting proteins. “The main medication to treat hemophilia is concentrated FVIII product, called clotting factor or simply factor” (National Hemophilia Foundation, n.d, para. 11). The medications are usually introduced intravenously in the arm or a port in the chest (National Hemophilia Foundation, n.d., para. 12). It may take a little tampering with certain medications by a physician to find the right medication and dose for each individual. In additions, mild hemophiliacs may be prescribed desmopressin acetate, a natural antidiuretic hormone that stops bleeding; which can be used for joint and muscle bleeds (National Hemophilia Foundation, n.d., para. 14). Severe hemophiliacs may be recommended a prophylactic regimen to help maintain an appropriate level of clotting factor in their blood in order to prevent bleeds (National Hemophilia Foundation, n.d., para. 13). Patients with mild hemophilia can lead a normal life with the right treatments and precautions, however

Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.

Hemophilia A is a disorder in which the blood doesn’t clot normally due to the lack of blood clothing factor VIII. Hemophilia A is also known as the ‘Classic Hemophilia.’ According to the CDC, hemophilia will occur in approximately 1 in 5,000 live births. It is called classic hemophilia due to the fact that this hemophilia is four times more common as hemophilia B. This disorder is mainly a hereditary bleeding disorder which is caused by an inherited X linked recessive trait. Some acquired forms do exist as well, largely in older patients, due to autoantibodies directed against factor VIII. The defected gene is located on the X chromosome. And it results from a heterogeneous mutation in factor VIII gene that maps for Xq28.

Professional and scientific psychology appears to have rediscovered spirituality and religion during recent years. As professionals increasingly embrace multicultural competency in counseling and therapy, religion and spirituality arguably stand out as cultural and personal factors that are a salient part of framing one’s experiences, beliefs, values, behavior, and illness patterns (Rose, Westefeld & Ansley 2001). Despite the growing understanding of the pervasiveness and importance of spirituality and religion, most psychologists have little training in dealing with religious and spiritual issues (Shafranske & Malony, 1990). In recent years, spirituality, religion, psychology, and science integration has been legitimized and has received significant

Then in the 1960s life expectancy for someone who has hemophilia is 20 because in the hospitals, fresh and frozen plasma were transfused into patients. But, each bag of plasma does not contain much of the necessary clotting factor that huge volumes of them had to be administered. So many children had severe joint bleeds which could be fatal. Later by the mid-1980s it was confirmed that HIV and AIDS could be transmitted by blood so half of the people with hemophilia became infected and thousands of people