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What Causes Hemophilia / Haemophilia?

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knowledge center home » hemophilia » all about hemophilia » causes of hemophilia

People with hemophilia are born with it. It is caused by a fault in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosome.

To understand how hemophilia is inherited, it is important to learn about chromosomes.

What are chromosomes?

Chromosomes are blocks of DNA (deoxyribonucleic acid). They contain very detailed and specific instructions that determine:

How the cells in a baby's body develop.

What features the baby will have, including, for example, hair and eye color.

Whether the baby is male or female.

In humans there are 23 pairs of chromosomes, including the sex chromosome pair. There are two types of sex chromosome:

The X chromosome

The Y chromosome

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All humans have a pair of sex chromosomes:

Males have an X + Y pair

Females have an X + X pair

NB Females do not have any Y chromosomes.

What chromosomes do we inherit from our parents?

A Male inherits his

X chromosome from his mother

Y chromosome from his father

A Female inherits

One X chromosome from her mother

One X chromosome from her father

She does not inherit both X chromosomes from her mother. She has no Y chromosomes.

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(Before reading on, remember that the faulty gene is never on the Y chromosome. If it is present, it will be on the X chromosome.)

Female (X + Xfaulty) is a carrier, but does not have hemophilia. The "good" X chromosome allows the production of enough clotting factor to prevent serious bleeding problems.

Male (Y + Xfaulty) will develop hemophilia and can pass it on.

If the father has hemophilia and the mother has no faulty gene (is not a carrier):

Father (Y + Xfaulty). Mother (X + X).

There is no risk of inherited hemophilia in their sons because boys will inherit their X chromosome from the mother, not the father (they inherit the father's Y chromosome only, which does not have the faulty gene).

All the daughters will be carriers but will not develop hemophilia although they will inherit the father's X chromosome, which has the faulty gene. However, their maternal X chromosome, which does not have the faulty gene, usually allows the production of enough clotting factor to prevent serious bleeding problems.

If the father does not have hemophilia and the mother has a faulty gene:Father (Y + X). Mother (X + Xfaulty).

There is a 50% chance that sons will develop hemophilia because:

There is a 50% risk that a son will inherit his mother's Xfaulty chromosome, plus his father's Y chromosome - he will have hemophilia.

There is a 50% chance he will inherit his mother's "good" X chromosome, plus his father's Y chromosome - he will not have hemophilia.

There is a 50% chance that daughters will be carriers, (but no chance of developing hemophilia), because:

There is a 50% chance she will inherit her mother's Xfaulty chromosome, making her a carrier.

There is a 50% chance she will inherit her mother's "good" X chromosome, which would mean she would not be a carrier.

Approximately one third of patients with hemophilia have no family history of the disease, either because of new genetic mutations, or because previous affected generations either had daughters (who were carriers) or sons who died in early childhood from hemophilia or any other cause or who were not affected.

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Types Of Hemophilia / Haemophilia

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knowledge center home » hemophilia » all about hemophilia » types of hemophilia

Hemophilia A and Hemophilia B

There are two main types of hemophilia - Hemophilia A (due to factor VIII deficiency) and Hemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or surgery.

After repeated bleeding episodes permanent damage may be caused to the joints and muscles that have been affected, particularly the ankles, knees and elbows.

Approximately 1 in 5,000 males is born with Hemophilia A, and 1 in 30,000 males is born with Hemophilia B. Hemophilia affects people of all races and ethnic origins globally. The conditions are both X-linked and virtually all sufferers of hemophilia are males. Female carriers may also bleed abnormally, because some have low levels of the relevant clotting factor.

People with hemophilia have a genetic mutation in the affected gene on the X chromosome, which results in reduced production of Factor VIII or IX and creates a bleeding tendency, because coagulation takes much longer than normal, thus making the clot weak and unstable

This is very rare. The patient develops the condition during his/her lifetime and it does not have a genetic or heritable cause. It occurs when the body forms antibodies that attack one or more blood clotting factors, (usually factor VIII), thus preventing the blood clotting mechanism from working properly. Patients may be male or female and the pattern of bleeding is rather different from that of classical hemophilia, the joints being rarely affected. The disorder is particularly associated with old age and occasionally complicates pregnancy.

U.K. Patients To Get $3.3 Million Hemophilia Gene Therapy For Free

Hemophilia is a blood disorder than can cause serious bruising, bleeding, pain and swelling after ... [+] even minor injuries.

getty

An English drugs cost regulator has approved a $3.3 million (£2.6 million) gene therapy for use by the country's public health system.

The pricey drug can help reduce the need for regular shots in people with rare blood disorder, hemophilia B.

People with the condition can experience severe and painful bleeding after minor injuries because they don't produce an essential clotting substance called factor IX. Instead, they had have to get regular factor IX injections to help their bodies heal.

The new gene therapy, Hemgenix (etranacogene dezaparvovec) from CSL Behring, has seen many trial patients stay off injections for years.

One said he feels "cured" after enduring serious, painful bleeds for decades. Elliott Collins, 34, took biweekly factor IX shots for 29 years before joining a trial of the drug in 2019. He hasn't taken a single shot since.

The therapy is given as a single infusion, but it's not yet clear for how long it will be effective. Some research suggests it could last up to a decade. But it hasn't worked for everyone, and a small number of trial patients still have to take regular shots.

"I will always be grateful for the quality of life I've had for the last five years, which hopefully will continue for a good while longer. I feel in the best health of my life," Collins told U.K. Charity The Haemophilia Society.

The charity's chair, Clive Smith, said the availability of the drug was "a major milestone" for the hemophilia community.

"At its most effective, gene therapy has the potential to transform lives by eliminating painful bleeds and removing the need for regular, invasive, treatment," he added.

Medicines cost-effectiveness watchdog the National Institute for Health and Care Excellence gave Hemenix the green light on Thursday under the country's 'Innovative drugs' fund.

The $860m (£680m) scheme is designed to bring "pioneering" drugs to patients quickly through the country's public health system, the National Health Service.

It enables "early access" to drugs while "further data is collected" on their long-term benefits, said Stephen Powis, national medical director for NHS England.

"This promising drug is the latest in a series of pioneering gene therapies secured for NHS patients at an affordable price," he added. It is the first to be funded through the innovative drugs scheme.

A year's worth of factor IX shots usually cost England's public health system between $190,000 (£150,000) and $255,000 (£200,000) per patient.

It's not clear exactly how much the NHS will pay for the new drug, a deal for which was brokered directly with CSL Behring.

It's possible the country will pay less for the drug if it doesn't work for as long as expected, according to the BBC reports.

People with moderately severe or severe hemophilia B will be eligible for the therapy, under the new guidance from NICE. This is around 250 of the 2,000 people in England thought to have the condition, according to the NHS.

These patients will get access to the drug for free under the country's public health system.

Powis said the "transformative" therapy "has the potential to significantly impove the lives of hundreds of people."

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