What is haemophilia

Haemophilia is a genetic disorder of haemostasis, that is, the blood clotting process. It is due to the lack or deficiency of a blood protein called clotting factor. In the blood plasma there are several factors (13 in total), which are called coagulation factors I-XIII and are all necessary for the haemostatic process. When one of these coagulation factors is absent or in low levels, the blood does not clot quickly, resulting in the person bleeding for longer time than other people do.

Haemophilia occurs more frequently in males than females, as is genetically transferred from mother to son. Therefore, the person is born with the disorder and lives with it throughout his or her life. The chance of giving birth to a girl with haemophilia is very rare.

The blood clotting process

When blood vessel brakes, specific blood cells, called platelets, concentrate at that point and create a clot, The clotting factors then form a matrix surrounding the clot, which stabilizes it at the point of bleeding. This way, the point of blood leakage is "sealed" and the bleeding stops.

In case of haemophilia, the absence or insufficient amount of one of the clotting factors prevents the formation of a strong matrix around the clot, making the clot easily degradable and the bleeding to continue for longer period.

There are two major types of haemophilia:

Haemophilia A

In haemophilia A there is lack or deficiency of clotting factor VIII (Factor 8). It is the most common type of haemophilia as it accounts for about 80% of haemophilia cases. . Haemophilia A occurs in 1 in 5,000 newborn boys or in 1 in 10,000 births.

Haemophilia B

Haemophilia B (also known as Christmas disease) is caused by the lack or deficiency of clotting factor IX (factor 9)..

Haemophilia C, which is extremely rare, is caused by the lack or deficiency of clotting factor XI (factor 11). It affects both men and women.
Τα άτομα με αιμορροφιλία εκδηλώνουν αιμορραγικά επεισόδια αυξημένης συχνότητας και διάρκειας συγκριτικά με τον υπόλοιπο πληθυσμό.
Depending on the levels of clotting factor in the blood, haemophilia is classified as mild, moderate and severe.
Ήπια
Στην ήπια αιμορροφιλία, το ποσοστό παρουσίας του παράγοντα πήξης κυμαίνεται μεταξύ 6% - 40%. Στην περίπτωση αυτή, μια αιμορραγία μπορεί να προκληθεί ύστερα από σοβαρό τραυματισμό ή χειρουργική επέμβαση και συνήθως δεν καθυστερεί ιδιαίτερα να σταματήσει.
Ήπια
Στην ήπια αιμορροφιλία, το ποσοστό παρουσίας του παράγοντα πήξης κυμαίνεται μεταξύ 6% - 40%. Στην περίπτωση αυτή, μια αιμορραγία μπορεί να προκληθεί ύστερα από σοβαρό τραυματισμό ή χειρουργική επέμβαση και συνήθως δεν καθυστερεί ιδιαίτερα να σταματήσει.
Ήπια
Στην ήπια αιμορροφιλία, το ποσοστό παρουσίας του παράγοντα πήξης κυμαίνεται μεταξύ 6% - 40%. Στην περίπτωση αυτή, μια αιμορραγία μπορεί να προκληθεί ύστερα από σοβαρό τραυματισμό ή χειρουργική επέμβαση και συνήθως δεν καθυστερεί ιδιαίτερα να σταματήσει.

Haemophilia is diagnosed by blood tests that measure platelet count, blood clotting time, prothrombin time (PT) and partial thromboplastin time (aPTT), followed by measurements of factor VIII or factor IX levels. The diagnosis of mild or severe haemophilia is usually made in infancy (0-2 years old), as the baby's parents observe bruises on their hands or feet, especially when they start crawling or walking. Haemophilia should not be confused with von Willebrand disease, a bleeding disorder due to the lack or defective function of a different type of clotting factor, called von Willebrand factor (VWF).

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References:

1.WFH. What are bleeding disorders? 2016.
Available at: http://www.wfh.org/en/page.aspx?pid=1282 [Accessed 24 October 2019]

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This information is intended to inform and update the public and may in no way serve as a substitute to consultation with a doctor or other professional health service.
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