What is hemophilia in simple words?
Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding.
What is hemophilia Wikipedia?
Haemophilia, or hemophilia (from Ancient Greek αἷμα (haîma) ‘blood’, and φιλία (philía) ‘love of’), is a mostly inherited genetic disorder that impairs the body’s ability to make blood clots, a process needed to stop bleeding.
How hemophilia is caused?
The primary cause of all types of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. Clotting factors help the blood form clots that seal up wounds. For both hemophilia A and B, about two-thirds of the mutations come from a parent.
Why is it called hemophilia?
The word hemophilia derives from two Greek words: haima, meaning blood, and philia, meaning affection. Hemophilia is an hereditary condition. This means that it is passed on from mother to child at the time of conception. The blood of a person with hemophilia does not clot normally.
What gene causes hemophilia?
In people with hemophilia, there is a mutation (difference from normal) in either the gene for the factor VIII protein or the gene for the factor IX protein. The mutation causes the body to produce too little factor VIII or IX.
What is an example of hemophilia?
For example, a boy has only one X chromosome, so a boy with hemophilia has the defective gene on his sole X chromosome (and so is said to be hemizygous for hemophilia). Hemophilia is the most common X-linked genetic disease.
Who discovered hemophilia?
In 1803, John Conrad Otto, a Philadelphia physician, was the first to publish an article recognizing that a hemorrhagic bleeding disorder primarily affected men, and ran in certain families. He traced the disease back to a female ancestor living in Plymouth, New Hampshire, in 1720.
What is hemophilia common name?
Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein.
What is the most common cause of hemophilia?
In the most common types of hemophilia, the faulty gene is located on the X chromosome. Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from the mother and an X chromosome from the father. Males inherit an X chromosome from the mother and a Y chromosome from the father.