By THÉRÈSE MARGOLIS    

When the 600 or so supporters of hemophilia awareness gather in Mexico City’s Zócalo on Sunday, April 15, to begin their two-hour march to the Alameda, they probably will not make much of an impression in the media.

The marchers’ numbers are small, as is the number of Mexicans who have been diagnosed with the disease, just 6,115.

But numbers don’t always tell the whole story.

As Jaime Quintero Chávez, head of the Hemophilia Clinic of the Centro Médico Nacional La Raza, pointed out earlier this week during a press conference to announce the upcoming march, only about half of Mexico’s hemophiliacs have been detected – meaning that the real population of sufferers is probably about 12,000 – and even among those who have been diagnosed, the majority are not receiving the treatment they need to live full lives as productive members of society.

“April 17 will mark the 28th World Hemophilia Day,” added Alfonso Quintero Espinoza, president of the Mexican Hemophilia Federation (FHRM).

“We want to get the word out that this disease can be treated and that patients do not have to die or end up in wheelchairs if they are given the appropriate therapy.”

“The biggest problem we face is the lack of awareness about hemophilia,” said Quintero Chávez.

“Many patients go undiagnosed until it is too late and they have already suffered permanent and irreversible consequences.”

Once known as “the royal disease” because it afflicted the royal families of Spain, Germany and Russia (through a gene passed down by Queen Victoria of England), hemophilia is a rare bleeding disorder that prevents blood from clotting normally.

Usually inherited from through an X chromosome, the disease is incurable and far more common in males than females.

 

In addition the obvious danger of bleeding to death from an external injury, hemophiliacs face a number of possibly debilitating side effects from the disease, including bleeding in the joints and muscles which can cause scarring and permanent deformation, thus limiting their mobility.

In more serious cases, hemophilia can cause bleeding in the brain, which can lead to cerebral damage or death.

“We urgently need to make a national registry of hemophilic patients, and we need to train physicians and other medical personnel so that they are better prepared to treat these patients,” said FHRM secretary Minerva Cruz Ramírez.

As it stands now, there are rough guidelines for the treatment of hemophiliacs, but they are not mandatory and there are no formal national norms for procedural therapy.

Quintero Chávez went on to explain that while diagnosed patients in Mexico under the age of 10 are generally offered prophylactic treatment with regular injections of clotting agents, older and undiagnosed patients are frequently offered only on-demand therapy when they arrive at a clinic or hospital.

The problem is that not all smaller hospitals and clinics have the agent on hand, and even if they do have the drugs, they often wait up to 48 hours to administer the medication, which means that the patient may face permanent damage.

The treatment of hemophilia is extremely expensive.

Medication for an individual patient who receives two or three clotting agent injections a week can run about $300,000 a year.

In Mexico, nearly every major insurance company and public health institution will cover the cost for younger patients, but because the treatment is so expensive, it is unlikely that the practice of switching to on-demand (i.e., when necessary) therapy for older patients will change any time in the near future.

Nevertheless, according to some studies, untreated patients who develop debilitating immobility end up costing society nine times more than they would if they receive regular clotting-agent therapy.

There is also hope of a new treatment approach through gene therapy.

A landmark study published in the New England Journal of Medicine reported that an international research team led by scientists at the University College London successfully used gene therapy to replace the defective or missing copy of the clotting gene in a small group of patients with hemophilia.

A spokesman for UniQure, the U.S.-Dutch company that is developing the hemophilia drug, recently pointed out that, if successful, the new one-time therapy could potentially eliminate patients’ dependence on regular blood product infusions that can cost more than $5 million over 10 years.

Still, the costs for the new therapy are staggering.

This pioneering gene-altering treatment for hemophilia could cost as much as a $1 million for a single application.

“If a hemophiliac patient is diagnosed early in life and given appropriate treatment, their life expectancy is about the same as any other person,” said Quintero Chávez.

“The key to them having a long and active life is timely treatment.”