LivingHemophilia, a silent disease?

Hemophilia, a silent disease?

Although it is a disease that does not understand ethnic groups or ages, it is linked to Spanish royalty after the marriage between Felipe VI’s great-grandfather and Victoria Eugenia, Queen Victoria’s granddaughter, who introduced hemophilia to the Spanish royal family.

Great problems were generated in the royalty due to this condition, since two of the children that these kings had died due to hemorrhages after a traffic accident. For this reason, it is known as the “ disease of kings ”.

Hemophilia is a genetic disease characterized by spontaneous or prolonged bleeding due to coagulation deficiency of factors VIII or IX.

We call hemophilia type A (the classic one) caused by an absence or decrease of coagulation factor VIII , while if the deficiency or lack of coagulation factor IX we call it hemophilia B (Chrtistmas disease).

It is recognized as one of the rare diseases (rare diseases) according to the Rare Diseases and Orphan Drugs Information Portal (Orphanet).

How is a hemorrhage stopped?

A hemorrhage begins when a capillary vessel is injured and blood spills out. The capillary constricts to help slow bleeding. Next, blood cells called platelets form a plug to cover the injury. Then, many clotting factors in the plasma work together to form a clot over the plug. This strengthens the plug and stops the bleeding.

Coagulation factors help coagulate the blood and thus stop bleeding. When there is a deficit of this protein or its absence, the blood is not able to coagulate correctly.

It should be noted that people who live with this health condition do not bleed more, but the duration of the bleeding is longer . The disease is hereditary , it is not contagious and it does not usually affect women.

Signs and symptoms of hemophilia

Bleeding can be internal or external in any part of the body and as a result of a blow or injury. People who live with this health condition are more likely to have bruises and bleeding for a longer time.

Sometimes bruises may appear without the person himself remembering the origin or reason, but that is when we call spontaneous bleeding.

From the Center for Disease Control and Prevention (CDC) they describe the most common signs as:

  • Joint bleeding . This can cause swelling and joint pain or stiffness; it frequently affects the knees, elbows, and ankles.
  • Bleeding under the skin (bruises) or into the muscles and soft tissues, causing blood to collect in the area (hematoma).
  • Bleeding in the mouth and gums , and bleeding that is hard to stop after a tooth is knocked out.
  • Bleeding after circumcision (surgery done on baby boys to remove the skin that covers the tip of the penis, called the foreskin).
  • Bleeding after receiving injections , such as vaccinations.
  • Hemorrhage in the head of the newborn after a difficult delivery.
  • Nosebleeds that are frequent or difficult to stop.

 

Every April 17, World Hemophilia Day is celebrated . This year a motto focused on the accessibility of new treatments has been proclaimed; “ Access for all: Alliances. Public politics. Progress. Engage your government, integrate inherited bleeding disorders into national public policy

The treatment of hemophilia is based on the regular administration of the deficient factor that the patient has. The new advances published by the Spanish Society of Hematology and Hemotherapy (SEHH ) on non-substitution treatments and gene therapy have opened a new course of action that promises to improve the quality of life of these people.

From the FFPaciente Association we interviewed Irene Jiménez, mother of Yago and member of the Hemophilia Association of the Community of Madrid (ASHEMADRID) in the “patient podcast ” to find out what it really means to live together as a carrier of the disease but also knowing that his son Yago had developed the disease.

During the interview, Irene verbalized the importance of patient associations as a meeting point for relatives and patients . “ We have a whatsapp group for parents in which we get in touch with each other to support each other and keep up to date with the latest advances in the disease

To conclude the article, we must understand and understand the causes of this pathology to help protect people who live with this disease. It will be essential for people to know their risks and their possible complications in order to act immediately in the event of having any type of hemorrhage.

Bibliographic references

Center for Disease Control and Prevention. 2020. Basic information about hemophilia. https://www.cdc.gov/ncbddd/spanish/hemophilia/facts.html#:~:text=Hemophilia%20is%20a%20disorder,help%20a%20stop%20the%20hemorrhage

World Federation of Hemophilia. 2009. Hemophilia in pictures. Caregiver Guide. http://www1.wfh.org/publication/files/pdf-1319.pdf

Jiménez-Yuste, V., Álvarez Román, MT, Mingot-Castellano, ME, Fernández Mosteirin, N., Mareque, M., & Oyagüez, I. 2018. Cost analysis of treatment for hemophilia A patients with inhibitor in Spain . PharmacoEconomics Spanish Research Articles , 15 (1), 25-34.

Spanish Hematology and Hemotherapy Society. 2020. New non-substitution treatments and gene therapy, main advances in hemophilia. https://www.sehh.es/sala-prensa/notas-prensa/123863-los-nuevos-tratamientos-no-sustitutivos-y-la-terapia-genica-principales-avances-en-hemofilia?highlight=WyJ0ZXJhcGlhIiwiJ3RlcmFwaWEiLCJnZW5pY2EiLCJoZW1vZmlsaWEiLCJoZW1vZmlsaWEnIiwidGVyYXBpYSBnZW5pY2EiXQ= =

World Federation of Hemophilia. 2022. Introduction to hemophilia. https://elearning.wfh.org/elearning-centres/introduction-to-hemophilia/?_ga=2.21904251.1514354390.1650178971-1117751468.1650178971&_gl=1*1w1wm28*_ga*MTExNzc1MTQ2OC4xNjUwMTc4OTcx*_ga_7974KH9LH5*MTY1MDE3ODk3MC4xLjEuMTY1MDE3OTAxMy4w#what_is_hemophilia

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