An Autosomal Dominant Disorder

Human cells carry two copies of each chromosome they have two versions of each gene and the different versions are called alleles. Alleles can be either dominant or recessive. Dominant alleles means you have one copy of the gene or your heterozygous. Recessive alleles means you have two copies of the gene or your homozygous.

No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have

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.

According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family

transluminal angioplasty in a 14-year-old girl with this disorder. Recessive inheritance was suggested by the

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Tetralogy of Fallot (ToF) and Transposition of the great vessels (TGA) are congenital heart defects affecting the vessels of the heart. In both pathologies, patients present with cyanosis, due to abnormal communication between ventricles. The mechanisms by which cyanosis occurs differs because ToF impacts blood flow due to constriction and TGA impacts the ability of the body to receive re-oxygenated blood.1

It was around 7 o’ clock in the afternoon on a Tuesday afternoon when my 7 year old patient almost bled out in a hallway at Nicklaus Children’s Hospital. This little girl had come back from a cardiac catheterization at 12 pm on March 29, 2016. This patient had a history of Patent Ductus Arteriosus, a heart condition in which the ductus arteriosus vessel fails to close after birth compromising the blood circulation by mixing oxygenated blood with the deoxygenated one (Tetsuya, et al., 2015).

They can also be known as... Naevus flammeus, Klippel-Trenaunay syndrome, Maffucci's syndrome, Hereditary hemorrhagic, Telangiectasia, Ataxi-telangiectasia.

Instead surrounding the blood vessel lining will be red blood cells that stop because the plasma has become damaged and completely surround the vessel not allowing blood to flow through, a thrombus has now been created. Knowing how important is that your blood have enough space to transport what it is responsible for you can notice how serious and threatening this can be. Atypical HUS will effect both children and adults. This disease is yet so rare that there is not an exact number to give one person pertaining to numeric value of children and adults effected. There has been approximately one to three million cases of aHUS. The prevalence is unknown, doctors are discovering more and more cases so we know there are still so many more people out there but it is only a matter of finding them. There lied a myth that said it effected children and a very low percentage of adults founded cases proofed otherwise, aHUS has effected 59% of children and 41% of adults. So what is Atypical HUS? Hemolytic anemia and thrombocytopenia are the key components of the hemolytic and uremic stands for the renal

According to the CDC website, Hemophilia, is a hereditary bleeding disorder which affects mostly males due to X chromosome singularity. Hemophilia is a medical condition in which the blood clotting becomes a challenge for those affected. Symptoms include spontaneous bleeding from injuries or surgery. Blood contains many proteins called clotting factors that assist in blood coagulation, however; those individuals with hemophilia have low levels of either factor VIII or factor IX. The severity of the condition is determined by the amount of factor in the blood thus the lower the amount of the factor, the higher the chances that spontaneous bleeding will occur leading to more severe health complications.

A genetic disorder that affects the blood vessels when injured that results in clotting is Hemophilia. This inherited disorder is not contagious and is found through various lab tests such as a blood clotting test. The way someone can be aware if they could encounter Hemophilia is simply by viewing their medical history,

An arteriovenous malformation (AVM) is an abnormal collection of blood vessels in which arterial blood flows directly into the draining vein without the normal interposed capillaries. AVM are tangled anastomosis of blood vessels of varying calibre in which arteriovenous shunting occurs in a central nidus in which the area towards in which multiple feeding arteries converge and from which enlarged vein drains.1 They have a higher rate of bleeding than normal vessels. AVMs can occur anywhere in the body. Brain AVMs are of special concern because of the damage they cause when they bleed. The incidence of AVM is about 1 in 100,000 per year in unselected

There have been a dozen genes found to have mutations that cause Ehlers Danlos. Usually the most common result from mutation is in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB is a very small percentage of the hypermobility. Mutations in the vascular type result in mutations from the COL1A1 gene. Mutations in the COL1A1 gene or the COLIA12

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.