Hemophilia not the scourge of previous decades

An enlightened health-care system, the availability of recombinant clotting agents, and a network of 29 hemophilia programs across the country are allowing approximately 5,000 hemophiliacs in Canada to enjoy a much improved quality of life than was the case decades ago.

In northeastern Ontario, the Sudbury and Northeastern Ontario Hemophilia Program serves upwards of 130 hemophiliacs. An interprofessional team includes hematologist Dr. Kulwant Gill and hemophilia nurse co-ordinator Betty Ann Paradis, who assess and monitor patients and teach them how to administer infusions of clotting agents. Physiotherapist Nicole Graham provides rehab services for patients coping with joint damage caused by internal bleeds, and a social worker, Linda Mansfield-Smith, provides counselling services.

Health-care for hemophiliacs in northeastern Ontario improved with the establishment of the Sudbury program in 1980 and took a giant leap forward beginning in the early ’90s, when recombinant clotting agents replaced blood products that exposed hemophiliacs to HIV. In Canada, unlike many countries around the world, clotting agents are provided free of charge through Canadian Blood Services.

Hemophilia is generally inherited, but can also occur as a result of a mutation. Females can be carriers of the genetic disorder, but most hemophiliacs are male. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it.

Family history

“If there’s a family history and we know the mother is a carrier, we would test a child right away at birth,” said Paradis, who has served as a hemophilia nurse since the inception of the Sudbury program and teaches nurses all over the world in her role as president of the Canadian Association of Nurses in Hemophilia Care. In the absence of a family history, a diagnosis would only be made following a blood test or circumcision resulting in excessive bleeding.

The disorder can also manifest itself when a child loses a tooth or is three or four and sustains serious bruising as a result of being placed in a Jolly Jumper, said Paradis. In some cases, parents bringing their bruised infants to an emergency department have been suspected of child abuse. “We’ve had some children diagnosed that way.”

Adults with milder cases of hemophilia are sometimes only diagnosed following a surgical procedure that results in prolonged bleeding.

Hemophiliacs don’t bleed more intensely than a normal person, but can bleed for a much longer time. In severe cases, even a minor injury can result in blood loss lasting days or weeks. In areas such as the brain or inside joints, bleeding can be fatal or permanently debilitating.

Paradis teaches parents how to infuse their children at home and begins teaching children to do their own infusions as early as the age of seven.

The major risks are associated with bleeding in the joints, specifically in the ankles, knees and elbows.

“You can’t see that they have a bleed, but they can feel it because the joint is enclosed and the bleed causes pain,” said Paradis. “Once you have a bleed in a joint, the joint starts to deteriorate because the blood destroys the cartilage.”

Several successive bleeds in one joint increase its susceptibility to bleeds, requiring physiotherapy to regain range of motion and restore strength.

Children with hemophilia are discouraged from participating in sports such as football, boxing and contact hockey. “We don’t want them to be inactive,” said Graham. “We want them to be like other children, but to engage in a reasonable sport such as swimming, running or cross-country skiing.”

Counselling

Counselling services are provided to help clients make academic and career choices that minimize the risk of injury.

“We don’t want them pursuing careers as heavy duty mechanics or construction workers,” said Paradis. “If someone drops a two-by-four on their foot, it’s no big deal, but for a hemophiliac, it can result in a bleed, requiring an infusion and time off work.”

Hemophiliacs wear medic alert bracelets and have Factor First cards in their wallets that provide emergency medical personnel with information about their clotting factor deficiency, the recommended treatment and whether they have any antibodies to clotting agents.

Head injuries pose the greatest danger and can be critical if factor is not administered on a timely basis.

“It’s very important that emergency department staff listen to hemophiliacs,” said Paradis. “If you wait six hours before they’re triaged and if the patient has a head injury, it could result in permanent damage.”