What is hemophilia and what causes it?
Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether.
How hemophilia is inherited?
Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern . The genes associated with these conditions are located on the X chromosome, which is one of the 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 common is hemophilia in the world?
The meta-analysis showed that more than 1,125,000 men around the world have the inherited bleeding disorder; 418,000 of those have a severe version of the mostly undiagnosed disease. Previously, only 400,000 people globally were estimated to have hemophilia.
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 disease is called Christmas?
Hemophilia B is the second most common type of hemophilia. 1,2. It is also known as factor IX deficiency, or Christmas disease. It was originally named “Christmas disease” after the first person diagnosed with the disorder back in 1952.
Why is hemophilia called the Christmas disease?
Hemophilia B is also known as Christmas disease. It is named after the first person to be diagnosed with the disorder in 1952, Stephen Christmas. As the second most common type of hemophilia, it occurs in about 1 in 25,000 male births and affects about 4,000 individuals in the United States.
Why haemophilia is called Christmas disease?
It was originally named “Christmas disease” after the first person diagnosed with the disorder back in 1952. Hemophilia A is 7 times more common than hemophilia B, occurring in about 1 in 25,000 male births in US and 1 in 30,000–60,000 in India. All races and economic groups are affected equally.
What is Christmas disease?
Hemophilia B, also known as factor IX deficiency or Christmas disease, is the second most common type of hemophilia. The disorder was first reported in the medical literature in 1952 in a patient with the name of Stephen Christmas.
What is Type B Christmas disease?
Christmas disease, also called hemophilia B or factor IX hemophilia, is a rare genetic disorder in which your blood doesn’t clot properly. If you have Christmas disease, your body produces little or no factor IX. This leads to prolonged or spontaneous bleeding.
Can girls have hemophilia?
Hemophilia can affect women, too Females can also have hemophilia, but it is much rarer. When a female has hemophilia, both X chromosomes are affected or one is affected and the other is missing or non-functioning. In these females, bleeding symptoms can be similar to males with hemophilia.
Does haemophilia affect periods?
Most of you will experience irregular periods – whether they’re missed or late.