Childhood Diseases : A Genetic Disorder

Ischemic stroke is the blockage of blood vessels in the brain as a result of blood clots (thrombi), causing the portions of the brain nourished by the vessel and its tributaries to be starved of nutrients, poisoned, and to eventually die (“Symptoms

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

3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?

Some blood disorders can be prevented while there are others that are out of a person’s hands and have to live with a blood disorder for a life time. It is essential to know the causes of hereditary disease and know how to treat them. It is also important to know what can be done to “cure” other blood disorders and what preventive measures need to be taken in order to stop history from repeating itself. Iron deficiency anemia, sickle cell anemia, and purpura simplex are just a few blood disorders that people suffer from that are either inherited or can be prevented.

A parent can pass the abnormal gene for the disease to his or her child. Most circumstances are "autosomal dominant inherited" disorders, which means a person only need an abnormal gene from one parent to be affected. If a person have the genetic factor for von Willebrand disease, an individual have a 50 percent chance of spreading this gene to their children. The harshest form of the ailment (type 3) is "autosomal recessive," which means both parents have to pass an abnormal gene to the young (National Hemophilia Foundation, n.d.).

As the best of my knowledge I believe the two year old child is suffering from an inherited disorder called hemophilia. The Mayo Clinic describes hemophilia as a rare blood disorder that lacks sufficient blood clotting proteins. (Staff, B.M. ((n.d.)). Hemophilia. Retrieved September 27, 2016, from http://www.mayoclinic.org/disease-conditions/hemophilia/basics/treatment/con-20029824

3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?

Theoretically, people afflicted with hemophilia should not survive long enough to reproduce and pass on their mutated genes. However, there are treatments that allow hemophilia patients to live as long as an unafflicted person can. This adjustment to the population has put up a sort of resistance against the allele leaving the population. As far as keeping the allele in the population, the chance of passing it on is always there whether or not the allele already exists in the population. This is because this allele can arise simply from mutations. It does not necessarily need to be an allele that is already being passed around in the family lineage, although it is more likely to inherit the disorder this way. As far as the level of severity goes, the clotting factor level will be about the same from one generation to the next. For example, a son who inherited the recessive allele from his mother will typically have the same severity level as his mother, if she also has the disease or is a carrier of the disease. Another example is that the daughter of a man who is afflicted with a mild recessive allele will typically carry the allele for mild hemophilia as well. This will usually be the case, unless of course another mutation happens upon the existing mutation causing a difference in severity from the parent in comparison to the child. The level of severity is

Hemophilia A is a known X-linked recessive disorder. This condition or bleeding disorder is characterized by a deficiency in the activity of a coagulation factor, which in this case is F8 or coagulation factor VIII. This condition is clinically known to be heterogeneous and its severity depends on the plasma level of the coagulation factor VIII. Varying levels of hemophilia exist which are categorized based on percentage of coagulation factor within blood plasma compared to normal levels.

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.

Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease, accounting for 0.5% of all strokes. The annual incidence of CVT ranges 3–4 cases per million populations CVT is a multifactorial disease, with at least one predisposing factor identified in 80% of patients, including hereditary thrombophilia, pregnancy and puerperium, postoperative state, intracranial or local infections and use of oral contraceptives. Genetic or acquired thrombophilia, identified in more than 20% of the CVT patients, is among the most frequent identified risk

However there are 30% of cases are resulted from spontaneous mutation without any family history. Factor VIII deficiency (Haemophilia A) is the commonest type while incidence of Factor IX deficiency (Haemophilia B/ Christmas disease) is one fifth of it. Haemophilia is classified into 3 categories depending on the percentage of coagulation factor activity: severe (< 1%), moderate (2-5%) and mild (5-30%). Moderate and severe haemophilia has significant clinical manifestation as the patients have spontaneous bleeding especially into joint and

Hemophilia is one of the oldest recognized genetic diseases. The first known cases of hemophilia were recorded 1,500 years ago in the Babylonian Talmud. When the Jewish people of this culture performed circumcision, the infant boys occasionally experienced excessive bleeding and sometimes even fatalities. They documented this in their writings which stated that newborn boys did not have to be circumcised if two of their brothers had previously died because of bleeding from this procedure. This documentation not only shows that this disease existed at that time in history, but it also shows that they recognized the bleeding disease as being hereditary. Much later, in 1803, a Philadelphia physician named John Conrad Otto published an article about a bleeding disorder. His research described a disease that primarily affected men and was only linked to certain families. After Otto’s article in 1828, a student and his professor at the University of Zurich coined the

The clinical significance of PT is to measure inherited deficiency diseases for example factor VII deficiency, a bleeding disorder classified by

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.