a hereditary, sex-linked blood defect occurring almost exclusively in males that is marked by delayed clotting of the blood with prolonged or excessive internal or external bleeding after injury or surgery and in severe cases spontaneous bleeding into joints and muscles and that is caused by a deficiency of clotting Factors

Who first discovered this disorder?

Where, when and under what circumstances was it discovered?

  • Hemophilia was discovered by a man named John Conrad Otto.
  • In the 10th century Abulcasis was been the first person to describe the disease, but a man named Friedrich Hopff gave the disorder it's name in 1828.
  • The disorder was discovered in Philadelphia 1803.
  • It was first discovered and looked through when Otto first published a paper about a familial bleeding disorder that only affected male members.
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John Conrad Otto,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,Abulcasis

What are the symptoms/characteristics associated with this disorder?

At what age do the symptoms begin?

Are the symptoms treatable?If so, how?

Is the disorder fatal?

  • Hemophilia has many symptoms from excessive bleeding, like heavy bleeding from little cuts to bleeding in joints and the brain.
  • In severe hemophilia symptoms start at the age of 18 months.
  • The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.
  • Without proper treatment, hemophilia is crippling and often fatal.

What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other?

  • Hemophilia is inherited through a sex-linked recessive disorder.
  • This means that Hemophilia is a recessive gene that appears on the X chromosome.

Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)?

  • There are no environmental factors that affect the symptoms of hemophilia.

How common is the disorder?

Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex?

  • In Hemophilia A 1 in 4000 to 1 in 5000 are affected.
  • In Hemophilia B 1 in 20,000 are affected.
  • Hemophilia occurs more in males due to them only having one X chromosome.

What tests are done to confirm a diagnosis of this disorder?

  • Screening tests are blood tests that show if the blood is clotting correctly.
  • Clotting factor tests, also called factor assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity.

Which chromosome(s) is responsible for this disorder?

Is it caused by a gene mutation?

Which gene is involved?

Is it caused by a chromosomal mutation?

Which type: nondisjunction, deletion, inversion, etc.?

  • The X chromosome is responsible for the disorder hemophilia.
  • The two types of hemophilia are caused by permanent gene changes (mutations) in different genes.
  • The gene that is involved in Hemophilia A is the F8 gene.
  • The gene that is involved in Hemophilia B is the F9 gene.
  • Hemophilia is not caused by a chromosomal mutation.