A holistic approach to hemophilia treatment could change the landscape for people with rare diseases

Campaign in Latin America aims to promote holistic approach to tackling rare diseases such as hemophilia, which could make a big difference both for people with the disease and for their families, as part of the World Hemophilia Day, commemorated today with the aim of bringing the community closer to know this disorder. The date was chosen by the World Federation of Hemophilia (WFH), in honor of the birth of its founder, Frank Schnabel.

The initiative, called Extraordinary mothers, which is promoted by and for mothers in the region with hemophilia in collaboration with the Roche Latin America laboratory, offers information, tools and a support network to share, learn and act in search of the best future for their children with this condition.

Hemophilia is a blood disease that affects the clotting process and is inherited from the X chromosome in women in about 70% of cases., which makes them carriers of the gene in their families.

When blood does not clot properly, excessive bleeding occurs (internal and external) after an injury or injury.

Symptoms include various large or deep bruises, joint pain and swelling, unexplained bleeding, and blood in your urine or stool.

Treatment consists of injections of a clotting factor or plasma.

The inherited characteristic of this disease has put a stigma on women which affects their physical and psychosocial well-being, like that of their children.

There are two types which are classified according to the deficiency of two coagulation factors:

Factor VIII. Hemophilia A or classic hemophilia which represents 80 to 85% of cases.

Factor IX. It is known as hemophilia B or Christmas disease.

And they are grouped into:

Light. When severe bleeding occurs due to injuries or surgeries; in addition, spontaneous bleeding is rare. Your clotting factor is between 5 and 40%

Moderate. He presents with spontaneous and prolonged bleeding after trauma and surgeries. Your clotting factor is 1 to less than 5%

Grave. Bleeding occurs spontaneously in the joints and muscles. Your factor is less than 1%

¿What are the causes of hemophilia? According to the Centers for Disease Control and Prevention (CDC), the disorder it is caused by a mutation or change in genes that give instructions to make the proteins needed for the blood clotting process. The genes are located on the X chromosome of women, so they become carriers of this gene in their family.

The CDC notes that the X chromosomes contain many genes which are not present on the Y chromosome; Men, who inherit one Y chromosome from their father and X from their mother, can develop a disease such as hemophilia if they inherit the affected X chromosome.. In contrast, in women the disorder is less common, however, if the affected X chromosome is present it becomes a carrier and may show mild symptoms of bleeding.

Rarely, hemophilia can be contracted, that is, the person was not born with the disease; To contract it, the body develops antibodies or defenses that neutralize its own clotting factors.

Objectives for 2023

Currently, in Latin America, 80% of people with hemophilia do not have access to comprehensive care from diagnosis to treatment.

That is why, as part of World Hemophilia Day, which is commemorated every April 17, the community came together for adequate and continuing care for today and into the future.

As part of these efforts, the first Hemophilia Summit of the Americas took place in 2019, where key goals for 2023 were outlined.

These goals including ensuring that 100% of people with hemophilia in Latin America have access to comprehensive treatment to manage their disease.

In addition to raise the level of diagnoses in the region to 75% and offer patients with inhibitors treatment options to reduce bleeding and give them a better quality of life.

Finally, it is planned to establish metrics to measure the improvement in the quality of life of these patients.

Lessons from the pandemic

Cesar Garrido, president of the World Federation of Hemophilia, stressed that COVID-19 has not only increased the need for comprehensive care, but has also offered important lessons on how to achieve this.

For example, he says, with telemedicine “new communication channels have been developed to serve patients around the world“.

While the pharmaceutical industry has been involved and has struggled to develop new treatment options.

Garrido stressed the importance of collaboration between the public and private sectors to advance in the design of solutions that ensure comprehensive hemophilia care for all people with the disease.

The challenges to be met

Currently, underlined the expert, in Latin America Only 55% of cases have been diagnosed, compared to 74% in Europe, a key factor in ensuring the necessary care.

“We need to give medical staff and the hemophilia community a better understanding of the disease and encourage people who suspect they have a bleeding disorder to get diagnostic tests. To achieve this, unified work between the public and private sectors is essential, ”he said.

Noted that the goal should be to talk to health authorities to ensure proper diagnosis and treatment so that “they have a positive impact on people’s lives”, he pointed out.

This is why initiatives such as Extraordinary Mothers seek to promote dialogue and exchange between surrogate mothers in order to advance the 2023 goals and promote comprehensive care for people with the disease that enables them to lead a life. active and productive.

The countryside in Argentina

According to the doctor Daniela Neme, hematologist and medical director of Hemophilia Foundation in Argentina, “It is essential that people with hemophilia know more about their disease. The early treatment of bleeding, the availability of concentrates for home treatment and prophylaxis marked a huge advance in the management of the disease and had a significant impact on the quality of life of patients ”.

“We need to be aware that only the joint effort between the patient community, healthcare professionals, healthcare providers and government entities can ensure the best treatment for people with hemophilia. Our institution works so that the progress and achievements made can be sustained over time so that the benefits are evident“, He added.

“Our community is made up of a great diversity of people – from patients and their families to caregivers, doctors and researchers – each of whom has been affected by the pandemic in different ways,” the doctor said. Carlos Safadi Marquez, President of the Hemophilia Foundation.

“Our commitment is to continue to provide support to all of these people, now and in the future, once the pandemic is behind us.. The world has changed dramatically in the past year, but one thing remains the same: We continue to do it together and will always be stronger as a community, with our shared vision of “Treatment for all“, full.

As part of World Day activities, the Hemophilia Foundation is leading a campaign to make the disease visible throughout the community, through communication designs on its social media and website, as well as red lighting. buildings historic buildings in the city of Buenos Aires.

Among others, this Friday 16 from 6:00 p.m. to midnight The Galileo Galilei planetarium, the Torre Monumental de Retiro (former English tower), the Plaza Congreso monument and the Lezama palace were lit in red.

With information from EFE

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