What is Hemophilia A?
Hemophilia A is caused by defects/mutations in the F8 gene, which makes the coagulation factor VIII protein. The protein participates in blood coagulation, which is the process of blood clotting. Hemophilia A is when the gene has a defect and isn't able to produce normal coagulation VII proteins, which leads to poor blood clotting and excessive bleeding.
Discovery and Documentation
Cases of hemophilia were recognized in ancient texts, such as a family whose males all died from blood loss after minuscule injuries. In 1803, a physician named Dr. John Conrad Otto wrote a report about a hemorrhagic disposition in certain families, and he recognized that the condition was hereditary and only affected males. The word hemophilia was first used in a description of the condition in 1828. Finally, in 1952, hemophilia was recognized as two different diseases - hemophilia A and hemophilia B.
Diagnosis and Treatment
Most people are diagnosed with hemophilia at a very young age, with a rare occurrence in one's later years. The incidence rate of hemophilia A in the USA is approximately 1 in male 5,000 births, with an estimate of 20,000 affected currently in the United States. The incidence rate oh hemophilia A in the world is currently not well known, but approximately 400,000 people are affected worldwide. Families with a history of hemophilia are more likely to have hemophilia, and males are more likely to be diagnosed because the mutation affects the X chromosome. Symptoms include unreasonable bleeding (external and internal), easy bruising, swollen joints, and bloody urine. Current treatments include the injection of a clotting factor, plasma, or prophylaxis.
The prognosis of hemophilia A is relatively decent, but it does depend on the severity. If detected and treated early, one would be able to lead a normal life. Overall, in comparison to a healthy population, someone with mild hemophilia has a mortality rate two times higher, and someone with severe hemophilia has a mortality rate 5 times higher.
Inheritance and Research
Hemophilia A is inherited through an X-linked recessive pattern, which also means that fathers cannot pass X-linked traits to sons. Since males only have one X chromosome, they are more likely to contract hemophilia than females because it would require both X chromosomes to be altered.
Research currently being done on hemophilia A is a full cure. Researchers are exploring the chances of treating hemophilia with gene therapy. Their plan is to engineer mesenchymal stem cells, a type of adult stem cell, to produce high levels of F8.
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