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Hemophilia

Hemophilia is a rare bleeding disorder characterized by abnormal blood clotting. The most common signs of hemophilia are easy bruising and too much bleeding. People suffering from hemophilia have less or no clotting factor.

352 Questions

Why is hemophilia called the royal disease?

Hemophilia is often referred to as the "royal disease" due to its prevalence among European royal families in the 19th and early 20th centuries. Queen Victoria of the United Kingdom was a carrier of the disorder, and her descendants passed it on to various European royal families through intermarriage. This interconnectedness spread the condition, affecting notable figures in Spain, Russia, and Germany, which contributed to its royal association. The term highlights both the genetic nature of the disorder and its historical ties to monarchy.

What happens if you have hemophilia over time?

Over time, individuals with hemophilia may experience recurrent bleeding episodes, which can lead to joint damage, chronic pain, and reduced mobility due to hemarthrosis (bleeding into joints). They are also at increased risk for life-threatening bleeding after injuries or surgeries. If not effectively managed with factor replacement therapies, hemophilia can significantly impact overall health and quality of life. Regular medical care and monitoring are essential to mitigate these risks.

What is hemophilia herpes?

Hemophilia herpes is not a recognized medical condition; however, it seems to combine two separate health issues: hemophilia, a genetic disorder that impairs the blood's ability to clot, and herpes, a viral infection caused by the herpes simplex virus. Individuals with hemophilia can face severe complications from any infection due to their clotting issues, including herpes infections. Proper management and treatment are crucial for both conditions, particularly to prevent excessive bleeding during outbreaks or treatments. If you meant something else, please clarify!

If a human interphase nucleus contains three barr bodies it could be assumed that the person has hemophilia?

The presence of three Barr bodies in a human interphase nucleus indicates that the individual has a higher number of X chromosomes, specifically four X chromosomes. This condition is typically associated with Klinefelter syndrome (47,XXY) or other forms of X chromosome aneuploidy. Hemophilia, on the other hand, is a genetic disorder related to mutations in specific genes on the X chromosome, primarily affecting males with one X chromosome. Therefore, the presence of three Barr bodies does not directly imply that the person has hemophilia.

Females who are carrier for hemophilia?

Females who are carriers of hemophilia possess one normal and one mutated allele of the gene responsible for the disorder, typically located on the X chromosome. While they often do not exhibit severe symptoms of hemophilia due to the presence of the normal allele, they can experience mild bleeding problems and have a 50% chance of passing the mutated allele to their offspring. Male children who inherit the mutated allele will be affected by hemophilia, while female children may become carriers themselves. Genetic counseling is recommended for carriers to understand the risks for future generations.

Sam has hemophilia. Sam's brother mother and father do not have hemophilia. Draw a pedigree showing who has the disorder and who is a carrier?

In a pedigree chart, Sam would be represented by a filled square (male) or circle (female) to indicate that he has hemophilia. Since Sam's brother, mother, and father do not have hemophilia, they would be represented by unfilled squares (male) or circles (female). However, Sam's mother would be a carrier of the hemophilia gene, so she would be represented by a half-filled circle. The pedigree would show Sam with hemophilia, his mother as a carrier, and his brother, father, and other family members without the disorder.

What is the nickname for hemophilia?

The nickname for hemophilia is "the royal disease" because it was prevalent in European royal families due to the genetic inheritance pattern of the disorder. Hemophilia is a rare genetic bleeding disorder that impairs the blood's ability to clot properly, leading to prolonged bleeding and easy bruising. It is caused by a deficiency in clotting factors VIII (hemophilia A) or IX (hemophilia B).

What are 2 human sex linked disorders?

Sex-linked disorders are those that are inherited from genes located on the sex chromosomes, X or Y in humans. Some examples of X-linked disorders are Duchenne Muscular Dystrophy, hemophilia and red-green colorblindness. An example of a Y-linked disorder is called hairy ears.

What is the probability that their son has hemophilia?

Hemophilia is passed down from mother to son. It is extremely

rare for a woman to have hemophilia. It is necessary, though, for

a woman to be a carrier of the disorder for her son to acquire this

disorder. Females have two X chromosomes whereas males only

have one. When a boy is born, he takes one X chromosome from

his mother and one Y chromosome from his father. Therefore, he

can only get hemophilia through his mother.

Example One:

Mother(Carrier)+Father(Non-Affected)=50% chance of their son

acquiring the disorder and 50% chance of their daughter being a

carrier.

Example Two:

Mother(Non-Affected)+Father(Hemophiliac)=All sons will be

non-affected and all daughters will be carriers.

How does hemophilia progress?

Hemophilia is a recessive allele condition. Men can get hemophilia alot easier than women as the allele is found on the XY Chomosome pair. With men. they do not have the extra "tail" on the Y chromosome compared to the XX with a female. If the person has the recessive allele on the X chromosome and this person is male, they will be a hemophiliac as they do not have a 'pair' allele which could be dominant to stop the condition expressing itself. On a female, if there is a recessive (hemophilia) allele on one of the X chromosomes but on the other is a Dominant (normal) allele then she will be a carrier of the faulty gene but will not suffer from the condition herself. If the female have a recessive (faulty) gene on each of the XX chromosomes, then she will be a sufferer of the disease.

What happens to the DNA that results Hemophilia A?

There are several different mutations that can cause hemophilia and there is no typical answer to this question. There are different segments of code on the X chromosome that is responsible for enabling production of Factors VIII & IX. A mutation anywhere within these areas can be responsible for hemophilia. The type of mutation as well as the location of the mutation in that code can influence the severity of hemophilia as well.

Lets look at a reversal mutation that results in the creation of a stop codon (this type of mutation is often called a nonsense mutation) early on in the code sequence. The stop codon tells the machinery to stop production of the factor protein molecule at that point. In this case, the molecule would never actually be made.

If we look instead at a point mutation resulting in simply an incorrect amino acid in that location (often called a missense mutation) half way through the code sequence, results can vary dramatically. The factor molecule will be made incorrectly, either not functioning for its purpose at all or simply doing a less than efficient job.

I hope that helps some.

What is common between Down syndrome Hemophilia and Sickle cell anaemia?

Down syndrome, Hemophilia, and Sickle cell anemia are all genetic disorders caused by mutations in specific genes. These disorders can lead to various health complications and require ongoing medical management. Additionally, individuals with these conditions may need specialized care and support to maintain their health and well-being.

How does a healthy gene differ from a gene that causes hemophilia?

A healthy gene does not have mutations that disrupt normal blood clotting factors. A gene that causes hemophilia has mutations that affect the production or function of blood clotting factors, leading to difficulty in blood clotting and increased risk of bleeding.

What kinds of people have more of a chance of getting hemophilia?

Hemophilia is a genetic disease, therefore people who have ancestors who were hemophiliacs have a greater chance of getting it.

A woman is a carrier for hemophilia what is the chances for sons with hemophilia if the father does not have hemophilia?

There are no hard answers to this, it depends strictly on luck. The statistics are though not very good for their children. Statisically the couple have a chance of having a normal son, a daughter that is a carrier for hemophilia, a daughter with hemophilia and a son with hemophia.

What protein is missing or defective in hemophilia?

Hemophilia is a genetic disorder caused by a deficiency or defect in clotting factor VIII (hemophilia A) or factor IX (hemophilia B). These clotting factors are essential for blood clot formation, and their deficiency leads to prolonged bleeding and poor clotting ability.

In a family with parents who do not have hemophilia one son has hemophilia. Who was the carrier of the gene for hemophilia?

First of all, Spontaneous mutations account for 1/3 of the cases of genetic hemophilia. This means that 1 out of 3 people born with hemophilia have no family history of the trait prior to that person. In the scenario you are describing, you are assuming that there was a carrier when in fact, there is a good chance that there was not.

There is also a chance that the child born with hemophilia received the mutation from his mother. Frequently women will have the mutation on one X chromosome but not their second. Depending od the individual case, the mother could carry the gene but not be symptomatic.

It is impossible for the son to have received the gene from his father. Since in order for a boy to actually be a boy, he must receive his father's Y chromosome and not his X chromosome, a son cannot receive the affected X chromosome from his father. Also, in order for a father to pass the trait on through daughters, the father himself would be a hemophiliac.

What is hemophilia commonly called?

Many years ago, it was refered to as 'the Royal Disease" also the "Bleeding disease".

Hemophilia B is also known as Christmas Disease.

If a female carrier for hemophilia mates with a healthy male who doesn't have hemophilia what are the expected genotypes and phenotypes of their children?

Haemophilia is a recessive, X-based disorder. The woman in your question is a carrier, meaning she has the defective gene, but isn't bothered by it. Therefor, the woman is of the type 'Xx'. The man is of the type 'XY', not carrying the defective gene. Their children can then be: XX, xX, XY, xY. This means that their daughters won't be affected by it, but might carry it, and their sons either not carry it at all, or carry it and be haemophilic.

What is a carrier for hemophilia?

A carrier for hemophilia is a female who carries the genetic mutation for hemophilia on one of her X chromosomes, but does not exhibit symptoms of the condition herself. Carriers can pass on the gene mutation to their children, resulting in hemophilia in male offspring. Testing can confirm carrier status.

What are the current treatments for hemophilia?

The current treatments for hemophilia include replacement therapy with clotting factor concentrates, gene therapy to introduce functional genes, and bypassing agents for patients with inhibitors. Additionally, patients may receive supportive care such as physical therapy and joint protection strategies to manage complications associated with the condition.

Heamophilia is an example of what?

Hemophilia is an example of a genetic disorder that affects the body's ability to form blood clots, leading to excessive bleeding and bruising. It is caused by a deficiency in clotting factors, most commonly factor VIII or IX.