Unexpected Diagnosis
People are born with hemophilia, a genetic disorder caused by a mutation (or change) in the gene that controls production of a certain clotting factor. The mutation causes the gene to not work properly. Like other genetic health problems, hemophilia can be passed from generation to generation, so often there is a known history of the condition within families.
Sometimes, however, someone is diagnosed with hemophilia even when there is no known family history. In about 3 out of 10 cases a diagnosis of hemophilia is unexpected. There are 3 reasons why this might happen:
- It could be that "silent" hemophilia was part of the family for generations. Females may have been carriers, but may not have had any sons, or by chance no males inherited the gene mutation, or those that did showed no signs of increased bleeding. Under such circumstances, no one would know that the gene mutation was being passed on—until a boy was born who showed symptoms.
- A woman could have developed a new mutated gene at the time she was conceived, making her the first hemophilia carrier in this family. Her children may end up as carriers or become the first members of the family to actually have the condition.
- The gene mutation could have happened for the first time when a child was conceived. In this case, the egg from his mother developed a mutation that was passed on to him. In such a case, the son has hemophilia but the mother is not a carrier. None of her other children will be affected by hemophilia.
What Is a Spontaneous Mutation?
Hemophilia is usually inherited by people from their parents' genes. Sometimes, however, it occurs even when no parent has the mutated gene. This is called a spontaneous mutation, meaning that the gene mutated spontaneously only in the affected individual. Such cases are also called sporadic or isolated hemophilia.
Dealing with an Unexpected Diagnosis
Of the 30,000 genes in our body, we all have several genes that do not work; we just don't know which ones. No one can control what genes we pass on. So when an unexpected hemophilia diagnosis is made, families need support adjusting to a situation that feels out of their control, particularly if there are no known carriers in the family. The local Hemophilia Treatment Centre (HTC) can offer invaluable support and help establish a team of resource personnel who will guide them through each stage of the child's development. The HTC will also arrange for genetic counselors and/or social workers to meet with the family.
It is now possible to test DNA samples from people with hemophilia, and from known and unknown carriers, to see whether a mutation is present, or not. This kind of testing is done through the HTC, and is helpful as the tests can show the exact gene mutation and may help to provide clues on hemophilia treatment.
Who Else Should Be Tested?
Upon diagnosing hemophilia in a family with no prior history, not all other family members have to be tested. Generally, only the person who has hemophilia, his mother, and other women in the mother's family will require testing. In 5-10% of cases however, this form of testing will still not identify the hemophilia mutation.
Identifying Carriers
When a baby or young child is diagnosed with hemophilia in a family with no previous history, healthcare professionals will discuss whether the family would like to have genetic testing to determine if someone in the family is a carrier of the hemophilia gene. When a parent is diagnosed as a carrier their reaction can include a range of emotions from disbelief to denial, grief, and anger. Hearing the diagnosis often causes parents to experience a state of shock, and worry for their other children and family members. Families may have added worries if there are older daughters, who potentially could also be carriers. A hemophilia diagnosis could affect a sister's choices in having children, or introduce the possibility of hemophilia to sisters who may already have children or be pregnant.
The Value of Genetic Counseling
Each family deals differently with the issues of an unexpected hemophilia diagnosis. Information and support from knowledgeable healthcare professionals are crucial at this time. Along with offering testing they can also provide follow-up counseling from a genetic counselor or family physician, and a referral to a Hemophilia Treatment Centre.
Proceeding with carrier identification has implications for the entire extended family and needs careful thought and discussion. The genetic testing to identify possible carriers can cause concern with both the family of origin and the in-laws. Genetic counselors can provide strategies on how to inform other at-risk female relatives such as sisters, daughters, or nieces. At the parents' request, most social workers and genetic counselors will meet with the extended family.
Will Spontaneous Mutations Always Occur?
The number of new cases of hemophilia worldwide will likely remain constant. There is now good evidence to indicate that cases of spontaneous mutation are due to new changes in the human genetic code, which occur in all of us, all of the time—and in rare cases can result in a new case of hemophilia.
The Future of Hemophilia
An unexpected diagnosis of hemophilia can be a fearful experience. But with new cases of hemophilia appearing at the same rate, and people with hemophilia living longer, the total number of people with hemophilia in the population will very likely increase in the next decade. Fortunately, children born with hemophilia today in Canada can look forward to healthy, active lives. Their lifespan is considered to be nearly normal. They are able to work, have children, and raise their families.
Through education and support, families can learn to cope with the medical aspects of a child's illness as well as adjust to the challenges that living with hemophilia brings. A close, cooperative relationship with the team from the Hemophilia Treatment Centre and their local Canadian Hemophilia Society chapter will provide medical and emotional support for the newly diagnosed patient and carrier. All parents need time to accept the fact that their child has hemophilia. Parents' attitude towards hemophilia affects their child's adjustment to the condition. A positive outlook will go a long way in a child's acceptance of some limitations without making them feel "different." Once the parents have adjusted to the news however, it is important that they accept the support that is offered, and enjoy raising their wonderful child through the trials, tribulations, and joys of each stage of the circle of life.