How is Hemophilia Inherited? |
Posted: October 27, 2022 |
The Centers for Disease Control and Prevention (CDC) estimates that hemophilia affects roughly one in every 5,617 live male births. In the United States, the number of men with hemophilia is between 30,000 and 33,000 (half of them diagnosed with Type-A have the severe form). What’s more, around 400,000 individuals worldwide, including 20,000 US citizens, live with hemophilia. What is Hemophilia?Hemophilia is a rare genetic disorder/condition in which an individual's blood doesn't clot properly, which may result in bleeding that is either uncontrollable or excessive. Clotting factors are proteins found in the blood responsible for stopping bleeding; individuals with hemophilia have abnormally low amounts of specific clotting factors. Depending on the clotting factors present in the blood, the severity of the condition may range from mild to severe. The common types of hemophilia are:
Hemophilia SymptomsThe National Organization for Rare Disorders reports that the severity of hemophilia may affect the symptoms. In most cases, a carrier (both male and female) will experience the following:
Hemophilia A, B, and B Leyden Inheritance PatternsHemophilia A and hemophilia B are both inherited in an X-linked manner. This is because the genes on the X chromosome are the ones responsible for the development of certain types of hemophilia. Scientifically speaking, we humans pass on the two chromosomes to our offspring. A single copy of the mother's X chromosome is passed on through the egg, while the father produces sperm cells containing either a Y or X chromosome. The Y chromosome is for the boy, and X is for the girl. Considering that males only have one copy of the X chromosome, if they get an X chromosome from their mother, there's a possibility for hemophilia. On the other hand, females are less likely to have the disorder since they have two copies of the X chromosome. Nevertheless, if they inherit two copies of the disease-causing mutation (one from each parent), they might develop the condition. Having said that, the circumstances are often more complicated. Although females have two copies of the X chromosome, throughout development, typically, one of the two chromosomes will become inactive. This occurs so that the number of active genes carried by the X chromosome may be controlled. Even if a female only has one copy of the mutation that causes the disorder, there's still a possibility that she may have this condition due to an inactive copy of one of her X chromosomes. These females often have the typical quantity of coagulation factor in their blood, which is essential for good blood clotting and occurs naturally in healthy individuals. However, a small percentage of female carriers have less than half the average amount of coagulation factor and are at a higher risk of having episodes of abnormal bleeding, particularly after surgery, injury, or tooth extraction. Hemophilia C Inheritance PatternHemophilia C is primarily inherited; however, it is essential to note that compared to hemophilia A, B, and B Leyden, it does not follow an X-linked pattern of inheritance since the mutation that causes it affects a gene located on chromosome 4 (a non-sex or an autosomal chromosome). This is why hemophilia C affects both males and females equally. In most cases, individuals with one defective copy of the gene that causes hemophilia C are asymptomatic and unaware of the condition. Suppose two individuals with the mutation have a child together. In that case, the offspring has a 1/4 chance of inheriting the condition since the parents might each contribute one defective gene copy. The probability here is 50%; however, there is also a 25% chance that the child may not inherit a copy of the disease-causing mutation and will neither become sick nor a carrier of the disorder. How is Hemophilia Diagnosed?Now that you know the answer to "How is hemophilia inherited," it's time to get yourself checked. Generally, blood tests are carried out to determine the quantity of factor VIII or factor IX present in the blood. Following the amount of clotting factor present in the blood, the doctor will be able to analyze the specific type of hemophilia you have and whether it is mild, moderate, or severe. It is best to schedule an appointment with a mobile lab service provider VA for quick results. World Hemophilia DaySince its inception in 1989, World Hemophilia Day has been celebrated every year on April 17 to bring attention to hemophilia and associated bleeding diseases. This specific day was selected to pay tribute to Frank Schnabel, the person responsible for establishing the World Federation of Hemophilia. Knowing the statistics mentioned above, this day is also a way to increase awareness of this inherited bleeding disorder, which in turn helps bring about the desired change in the world. World Hemophilia Day is about bringing together the worldwide community of people with bleeding disorders, as stated by the World Federation of Hemophilia. This goal has never been more vital than now, given that the COVID-19 pandemic has significantly affected individuals worldwide with bleeding disorders. In 2021, the celebration revolved around "Adapting to Change," while this year, the theme was "Access for All: Partnership. Policy. Progress."
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