Cytogenetics and the evolution of medical genetics
Everything You Need To Know About Hemophilia
Hemophilia is a rare bleeding disorder characterized by low levels of proteins called "clotting factors."
Hemophilia is an inherited blood disorder in which your blood does not clot properly. This can cause you to bleed more easily and sometimes lead to excessive bleeding, even from minor cuts or injuries.
There are several types of hemophilia, which are characterized by low levels of certain clotting factors. Healthcare professionals base the overall severity of the condition on the amount of factors present in the blood.
The exact number of people living with hemophilia is not known, but it affects more people assigned male at birth than those assigned female.
According to the Centers for Disease Control and Prevention (CDC), around 33,000 males in the United States have hemophilia.
Keep reading to learn more about the types, symptoms, causes, and treatments of hemophilia.
The symptoms of hemophilia may vary based on the severity of the condition.
In mild cases of hemophilia, you may only experience excessive bleeding after experiencing trauma, such as tooth extraction, vaccinations, surgery, or injury.
Symptoms of mild hemophilia usually only occur after an incident, so doctors may not diagnose it until you reach adulthood. In more severe cases, a doctor may diagnose the condition following a circumcision shortly after birth.
Hemophilia C is generally considered to be a mild form of hemophilia, which means its symptoms and signs align with those of mild cases of A or B.
The primary cause of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. This is called congenital, which means you acquire the trait from one or both of your parents at birth.
About two-thirds of type A and B cases of hemophilia occur in people with a family history of the condition.
It's also possible to develop acquired hemophilia with no personal or family history of hemophilia. This is known as acquired hemophilia, which is a rare autoimmune disorder.
An autoimmune disorder occurs when your immune system attacks healthy cells. In acquired hemophilia, the immune system creates antibodies that attack the clotting factors, most frequently factor 8 (acquired hemophilia A).
Genetics play a role in all three types of hemophilia.
Both hemophilia A and hemophilia B involve a recessive mutation on the X chromosome. Biological males typically have an X and Y chromosome, while biological females typically have two X chromosomes.
This means biological females are less likely to inherit hemophilia since they almost always have at least one non-mutated X chromosome. Instead, they can become carriers if they acquire one copy of the mutated X chromosome.
Being a carrier means that the person will not show any signs or symptoms of the condition, but they can still pass it on to their children. For example, biological males can inherit hemophilia if their mother is a carrier and they get the mutated X gene from them.
Hemophilia C is an autosomal inherited form of the disease. It affects biological males and females equally because the genetic defect that causes this type of hemophilia isn't related to sex chromosomes.
In the United States, hemophilia C affects about 1 in 100,000 people.
Hemophilia is a condition that's typically passed from parent to child. When someone is pregnant, there's no way of knowing whether the baby has the condition.
However, if your eggs are fertilized in a clinic using in vitro fertilization, they can be tested for the condition. Then, only the eggs without hemophilia can be implanted.
If you're worried your baby may develop hemophilia, preconception and prenatal counseling could help you understand your risk of passing hemophilia on to your baby.
Blood Clotting Disorders Linked To Three Proteins
Barry Coller, David Rockefeller Professor and the university's physician-in-chief, says that focusing on a receptor on the surface of blood platelets could offer new insights insight into potential causes and treatments for certain heart diseases. Platelets are the blood cells that cause clotting and play an important role in the development of many heart diseases.
Coller has been working on Glanzmann thrombasthenia, a rare disorder, in which platelets lack one of two proteins. The two protiens, áIIb and â3, are involved in collecting blood cells for coagulation. By analyzing patients with this disorder, Coller was able to arrive at a new therapy, which could give hope to heart attack and stroke patients. The findings are published in the April 1 issue of Blood. Coller and Beau Mitchell, a research associate in Coller's lab along with colleagues at the Mount Sinai School of Medicine found that the production of the protein was controlled by a third molecule called calnexin, which plays an important role in protein folding. These receptors could also play a role in cancer formation and metastases. But further research is needed. "Insights into rare diseases allow us to study and devise strategies for common diseases," Coller said.834 Useful Evaluation Of Thromboelastography For Coagulation Disorders In Critically Ill Patients
Background and aim: Many of inflammation mediators are involved in the coagulation proteins activation. Then aim of study was evaluated useful of thromboelastography for coagulation disorders diagnosis in critically ill patients.
Methods: By a serial cases design, we realized during three months a study with patients in critical state during stay in a pediatric intensive care unit. Every patient blood sample (1 ml) was obtained by venous peripheral puncture, carrying out analysis with a digital thromboelastograph, using for processing two types of reagent; unique (kaolin) or cocktail (kaolin+heparinase). Dynamics of clot was analyzed by seven indicators and for comparison we established groups for gender, pathology, infection and type attention condition. Data analysis was by non parametric statistics.
Results: We included 53 samples of a similar number of patients. Most frequent boss of coagulation disorder was hypocoagulation state (31/58.94%). Sensibility test was 82% with 76% specificity. Time for achieve force of clot showed difference (p=0.049) between patients with or without infection, as well as, in alpha angle (p=0.039), maximum clot extend (p=0.40), global clot (p=0.025) and in index of coagulation (p=0.036) in agreement to the type of reagent. Difference not exist (p>0.05) between boys and girls, or by surgical and clinical conditions.
Conclusions: Thromboelastography is a useful tool for coagulation disorders diagnosis in critically ill patients. We suggest and promote his rationale use in more pediatric disorders and conditions. This avoid unnecessary transfusions and reduce cost of hospitable stay.
Comments
Post a Comment