What is this condition?

Hemophilia is a bleeding disorder characterized by low levels of clotting factor proteins. Correct diagnosis of Hemophilia is essential to providing effective treatment. Blood Center of Wisconsin offers one of the largest diagnostic menus to accurately and confidently diagnose Hemophilia.

The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked recessive manner.  Females inherit two X chromosomes, one from their mother and one from their father (XX). Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. It also means that fathers cannot pass hemophilia on to their sons.

But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia. A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. Hemophilia can occur in daughters, but is rare.

For a female carrier, there are four possible outcomes for each pregnancy:

1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia

Hemophilia is an X-linked inherited bleeding disorder caused by mutation of the F8 gene that encodes for coagulation factor VIII or the F9 gene that encodes for coagulation factor IX. The degree of plasma factor deficiency correlates with both the clinical severity of disease and genetic findings. Severe hemophilia is characterized by plasma factor VIII or factor IX levels of under 1 IU/dl. Moderate and mild hemophilia are characterized by factor VIII or factor IX levels of 1-5 IU/dL or 6 – 40 IU/dL, respectively. Genetic analysis is useful for identification of the underlying genetic defect in males with severe, moderate or mild hemophilia and for determination of carrier status in the female individuals within their families. Additionally, data is emerging regarding the correlation between a patients mutation status and the risk of that patient developing an inhibitor.

People with hemophilia A often, bleed longer than other people. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts, dental procedures or trauma. How frequently a person bleeds and the severity of those bleeds depends on how much FVIII is in the plasma, the straw-colored fluid portion of blood.

Normal plasma levels of FVIII range from 50% to 150%. Levels below 50%, or half of what is needed to form a clot, determine a person’s symptoms.

Mild hemophilia A-  6% up to 49% of FVIII in the blood. People with mild hemophilia Agenerally experience bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.

Moderate hemophilia A. 1% up to 5% of FVIII in the blood. People with moderate hemophilia A  tend to have bleeding episodes after injuries. Bleeds that occur without obvious cause are called spontaneous bleeding episodes.

Severe hemophilia A.  <1% of FVIII in the blood. People with severe hemophilia A experience bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and musclesHemophilia A and B are diagnosed by measuring factor clotting activity. Individuals who have hemophilia A have low factor VIII clotting activity. Individuals who have hemophilia B have low factor IX clotting activity.Genetic testing is usually used to identify women who are carriers of a FVIII or FIX gene mutation, and to diagnose hemophilia in a fetus during a pregnancy (prenatal diagnosis). It is sometimes used to diagnose individuals who have mild symptoms of hemophilia A or B.

For Diagnosing the condition:

Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing mutation in up to 98 percent of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-causing mutations in more than 99 percent of individuals who have hemophilia B.

For Treating the condition:

There is currently no cure for hemophilia. Treatment depends on the severity of hemophilia.People who have moderate to severe hemophilia A or B may need to have an infusion of clotting factor taken from donated human blood or from genetically engineered products called recombinant clotting factors to stop the bleeding. If the potential for bleeding is serious, a doctor may give infusions of clotting factor to avoid bleeding (preventive infusions) before the bleeding begins. Repeated infusions may be necessary if the internal bleeding is serious. When a person who has hemophilia has a small cut or scrape, using pressure and a bandage will take care of the wound. An ice pack can be used when there are small areas of bleeding under the skin.

When bleeding has damaged joints, physical therapy is used to help them function better. Physical therapy helps to keep the joints moving and prevents the joints from becoming frozen or badly deformed. Sometimes the bleeding into joints damages them or destroys them. In this situation, the individual may be given an artificial joint.

Treatment may involve slow injection of a medicine called desmopressin (DDAVP) by the doctor into one of the veins. DDAVP helps to release more clotting factor to stop the bleeding. Sometimes, DDAVP is given as a medication that can be breathed in through the nose (nasal spray).

Researchers have been working to develop a gene replacement treatment (gene therapy) for Hemophilia A. Research of gene therapy for hemophilia A is now taking place. The results are encouraging. Researchers continue to evaluate the long-term safety of gene therapies. The hope is that there will be a genetic cure for hemophilia in the future.

“Although Medical Alert IDs have been around for decades, chances are you may not know the depths of their importance. It is vital for people who have life-threatening or potentially dangerous medical conditions to wear a notification in case of an emergency. It helps first responders and medical personnel recognize the medical conditions, medications, allergies and treatment wishes of the patient.  Wearing a medical ID protects against potentially harmful medical errors.  They can also eliminate trips to the hospital, reduce unnecessary hospital admissions and prevent minor emergencies from becoming major ones.

In an emergency, when you might be unable to speak for yourself, a medical ID bracelet or necklace speaks for you.”

Stellar Benefits Group

“Enabling women to breastfeed for as long as they desire would result in less illness and disease, as breastfeeding plays a key protective role for infant health. Fewer children would die from diarrhea and pneumonia – two of the leading causes of child mortality globally – as well as Sudden Infant Death Syndrome (SIDS)—a leading cause of infant mortality in the U.S.”

nationaltoday.com

“Gastroparesis is caused by nerve injury, including damage to the vagus nerve. In its normal state, the vagus nerve contracts (tightens) the stomach muscles to help move food through the digestive tract. In cases of gastroparesis, the vagus nerve commonly damaged by people with diabetes. This prevents the muscles of the stomach and intestine from working properly, which keeps food from moving from the stomach to the intestines.”

Cleveland Clinic

“Alzheimer’s disease tends to develop slowly and gradually worsens over several years. Eventually, Alzheimer’s disease affects most areas of your brain.  The Alzheimer’s stages can help you understand what might happen, but it’s important to know that these stages are only rough generalizations. The disease is a continuous process. Each person has a different experience with Alzheimer’s and its symptoms.”

MAYO CLINIC

“What you can do other than diagnosing and Rx Alzheimer’s.  If your family member or friend has a serious memory problem, you can help the person live as normal a life as possible. You can help the person stay active, go places, and keep up everyday routines; if they allow you. You can remind the person of the time of day, where he or she lives, and what is happening at home and in the world. You also can help the person remember to take medicine or visit the doctor.”

National Institute of Aging

“Researchers believe there is not a single cause of Alzheimer’s disease. The disease likely develops from multiple factors, such as genetics, lifestyle and environment. Scientists have identified factors that increase the risk of Alzheimer’s. While some risk factors — age, family history and heredity — can’t be changed, emerging evidence suggests there may be other factors we can influence.”

Alzheimer’s Association

“Alzheimer’s disease is an irreversible, progressive brain disorder that slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks.”

MAYO CLINIC

    

Neuroscience uncovered why people behave so violently looking into the Virginia Tech Massacre in 2007 with many other like incidents also which were still a small percentage of people. What happens in these individuals is that their cognitive control mechanisms are deranged. Mind you, these individuals are not out-of-control, enraged people. They just use their cognitive control mechanisms in the service of a disturbed goal. There are probably a multitude of factors at play here. The subject is exposed to influences that lead him or her to violent acts—including, unfortunately, not only the violent political rhetoric but also the media coverage of similar acts, as we are doing here. A variety of issues, especially mental health problems that lead to social isolation, lead the subject to a mental state that alters his or her ability to exercise cognitive control in a healthy manner. Again also childhood plays a big role.   The cognitive control capacities of the subject get somewhat redirected—we don’t quite understand how—toward goals and activities that are violent in a very specific way. Not the violent outburst of somebody who has “lost it” in a bar, punching people right and left. The violence is channeled in a very specific plan, with a very specific target—generally fed by the media (like take the protesting that has gone on from Missouri to New York for a month or more with media showing every news flash each day)through some sort of rhetoric, political or otherwise—with very specific tools, in the Giffords case, a 9-millimeter Glock.

Now lets look at what are the signs of a person who is disturbed enough to take some form of action to killing.   The signs are quite visible, although difficult to interpret without a context—and unfortunately they unfold very quickly , and people can rarely witness them before the action is taken (which happened with Brinsley in New York killing officers in Brooklyn on duty just doing their job), . The action itself is a sign, a desperate form of communication from a disturbed individual (Brinsley did put on the internet a warning the day it was going to be done, Sat 12/20/14. Unfortunately, nobody was chatting with the guy when he left his final messages on Internet before getting into action. But I bet that if somebody was communicating with him before the act and saw those signs and read those messages on social network he was using, that person could have done something, could have engaged him in a sort of conversation that might have redirected his deranged plans. Indeed, by connecting with the subject, that person might have redirected some of the activity of mirror neurons toward a truly empathic behavior, rather than in the service of the deranged imitative violence leading to action.

My readers I could go on with more examples of people killing but I am sure you listen to the news or read it somehow but I tell you this information not to persecute a person, not even a race or politician but to LEARN HOW THE BRAIN WORKS.   Most importantly to PARENTS bring your children up AS A CHILD not as an adult until they reach adulthood with giving good direction and guidance as their primary mentor. You the parents make our next generation who are now children and even for future parents learn so they will have a more productive working society. For now the society in America works as a   nonproductive unit of people to all races, creeds, genders, sex preferences, & nationalities of all kinds. Especially in being compared to the 1980’s; yes they had their problems but not like today’s with people treating each other with more respect even if things didn’t go their way. Our nation went off the deep end in allowing us to have freedom of everything without limitations or better rules/regulations legally in place not followed which we are paying a good price for and will take a very long time to fix. Remember when someone or now a group of people get hurt you can forgive but healing is like a wound it takes time to heal. Example: Look at Hitler, people still haven’t forgiven him, those that did have not forgotten it and they shouldn’t. Protesting can be effective where its peaceful, quiet, and not bothering other people in the area who aren’t involved. Look at El Paso and Ohio this past week, MUCH DAMAGE due to not thinking first but acting first on emotion and mental illness with fanatical thinking by one individual in both circumstances.