Hemophilia

A Disorder

Definition of Hemophilia

Hemophilia is when the person is born they have little to no clotting factor inside your knees,ankles, and elbows, also internally which can affect the organs inside of your body.

Symptoms

Bleeding is the main symptom of the disease also occurs in infants that are circumcised. There are more to that such as bruising,swelling,painful joints, and also long bleeding cycles.

Cause of this Disorder

This Disorder is caused by a defect in a persons genes that determines how the body makes blood clotting factor "F9 Mutations

Haemophilia B is caused by mutations in the F9 gene which codes for coagulation factor IX. There are currently 1094 unique variants in the F9 gene compiled within this database corresponding to 3713 individual cases"

How the disorder is inherited

Hemophilia is sex-linked trait caused by recessive allele.Hemophilia A and Hemophilia B are inherited is an X-linked recessive pattern the genes associated with these conditions are located on the X chromosome,Which is one of two sex chromosomes. in males who have only one X chromosome. "one altered copy of the gene in each cell is sufficient to cause the condition"

How the disorder is treated

For this disorder to be treated the person who has it must go through replacement therapy. Standard treatment involves replacing the missing clotting factor."Normally, when bleeding begins, a complex series of chemical events produces a "plug" to stop the bleeding; this plug is called a fibrin clot"

How the disorder diagnosed

Many people who have or have had family members who have hemophilia will get their baby tested shortly after birth. Diagnosis includes screening tests and clotting factor tests. Genetic counseling is preferred because if it is passed down they would have to talk about it for later purposes.

How many and What type of people are likely to have the disorder

About 18,000 people living in the u.s. have hemophilia. Hemophilia is most commonly found in women it cannot be passed to a boy child from father only to the daughter.

Application of research title

I learned that hemophilia is a blood clotting factor and it must be treated and it is a recessive chromosome that people have to live with if passed down.

The 5 Answers to the Questions

1. Is my disorder a mutation ? Yes it is caused by a mutation.

2. How does it occur ? a mutation.

3.Thinking about the process of Protein Synthesis, explain (in detail) how this mutation MIGHT occur ? Hemophilia might occur from Females and males.

4.What can be done to “fix” this mutation, if anything? hemophilia can be treated with replacement therapy.

5.How does this affect the offspring? the disorder is inherited to the male child.