In this issue ...
Hemophilia Carriers, Pediatric Carrier Testing, A Family's Perspective, CodeRouge Conference, Run4YourCause,
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Hemophilia Carriers
By Milena Pirnat, CHS-MC President
In this second newsletter we will try to tackle some of the issues that arise for women that are Hemophilia carriers. As a committee, we feel this might be thought-provoking for you to read a story from a patient’s perspective on carrier testing and how the journey of finding out their carrier status was a long one, and furthermore, what the rationale for testing was from a medical perspective.
Let’s first explore the genetics of hemophilia and how it affects families regarding women with bleeding disorders. A female who inherits one affected X chromosome becomes a “carrier” of Hemophilia. It is important to remember that Hemophilia affects families: If you are a man that has Hemophilia, all your daughters will be obligate carriers. If you are a woman (obligate or non-obligate carrier), you have a 50 /50 chance that your male children have Hemophilia and a 50/50 chance that your female children are carriers/mild Hemophiliacs. If you have a son with Hemophilia you have a similar chance to have a daughter with Mild Hemophilia, what used to be and sometimes still is called a symptomatic carrier. Similarly, there are chances that you might be affected and have low factor levels and bleeding symptoms yourself, and so have mild Hemophilia yourself.
Carriers of Hemophilia might have bleeding disorders themselves and they are not aware of it, as they usually do not experience severe bleeding symptoms. Carrier level factor tends to have broad range. In her paper “Women and bleeding disorders: diagnostic challenges” Dr. Paula James introduced a proposal to the Women’s Issues in Thrombosis and Hemostasis ISTH Scientific and Standardization Committee, that hemophilia carrier with factor levels >5% to 40% should be referred to as a woman or girl with mild hemophilia. Carriers with factor levels >40% should be referred to as symptomatic or asymptomatic, depending on their bleeding phenotype. We will update you more on these possible recommendations for nomenclature for carriers once more data is available.
Some common bleeding symptoms carriers suffer from include: heavy menstrual bleeding, easy bruising, and excessive bleeding after childbirth. Furthermore, you and/or your daughters may have levels higher than 40% and still have bleeding disorder symptoms that affect your quality of life and cause complications. Lately, it is recognized that regardless of factor level, symptoms of a bleeding disorder may be present, which still puzzles the medical community. If you and your daughters experience any of these symptoms talk to your health care team to receive a timely diagnosis. Treatment is available and you don’t need to suffer in silence.
There is still lot of medical debate and unknowns about women carriers with Hemophilia, but the good news is that there has been significant scientific interest on this topic and movement at WFH, NHF and CHS to tackle issues for women with bleeding disorders. The CHS-MC Women with Bleeding Disorders Committee is working hard to present current information on women with bleeding disorders for the Chapter website. Our goal is that all women with bleeding disorders can become empowered with the new knowledge they need to take care of their health and the health of their families, as well as to manage pregnancy and family planning.
Enjoy reading and please let us know the topics that interest you! You can reach out to us with your comments and ideas at: info@hemophiliamb.ca or call 204.775.8625.
*For more information please read All About Carriers; A Guide For Carriers of Hemophilia A & B
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Pediatric Carrier Testing for Hemophilia
Dr. Jayson Stoffman, MD, FRCP(C)
Medical Director Manitoba Bleeding Disorders Program
 When a carrier for hemophilia (A or B) has a child, the chances are always 50/50, either for their son to be affected or for their daughter to be a carrier. Daughters of a male with hemophilia are obligate carriers since they must inherit his affected X chromosome.
In girls who inherited the hemophilia gene on one of their X chromosomes, there is the possibility that they will have lower than normal levels of Factor 8 or 9, and the potential for bleeding issues. This happens because one of a female’s two X chromosomes is always turned off; sometimes it happens to be the one with the normal Factor gene.
For girls who are potential carriers, the urgency of testing depends on their clinical problems. The Canadian Pediatric Society recommends against the genetic testing of minors without either their understanding and agreement (assent), or a medical reason for the testing. If there are no bleeding symptoms, we would not need to test these girls unless they asked to find out.
When testing is done, we can either measure the factor level, which is probably the most relevant clinical information, or send the blood for analysis of the factor 8 or 9 gene. Often we will do both to be certain that we get the answer, since not all carriers will have abnormal factor levels.
If you have questions about your girls, please speak to the Bleeding Disorders team, and we’d be happy to discuss the specific details with you.
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Diagnosis & Carrier Testing; A Family's Perspective
Sandra Penner, Chapter Member
 I have two daughters and two very different stories of how each of them came to find out their carrier status. I was diagnosed as a carrier several months after my son was diagnosed as a severe hemophiliac. The process was simple my blood was taken, my mom's blood was taken and off it was sent to a lab far away to determine how this mutated gene got to my baby boy. I was the carrier and it all started with me. Our past was determined. Now our future became cloudy, beyond how hemophilia would impact our son, was the question of how hemophilia would affect our daughter in the future.
Our oldest child, a daughter, was 5 years old when our son was diagnosed and I found out I was a carrier. Our journey to finding out her carrier status was a long way off. Initially, we were told that she would only be able to be genetically tested when she was an adult. The issue got put on the back burner for about 7 years. When our daughter was 12 she tore her ACL and we knew she would need surgery eventually. She had her factor levels checked the result put her into the “could be” or “not be a carrier” category. The question of her carrier status was once again at the forefront and I began asking for my daughter to be allowed to have genetic testing with the answer always being, no. Having her wait until adulthood had been bothering me for a while. I preferred that she would be allowed to find out sooner as I wanted her to be able to factor (see what I did there) it in when she was making plans for her future and I felt that finding out your carrier status while planning for Post-secondary was too much at once.
About 2 years later, when I talked to the doctors at clinic once again, I was met with willingness to get her in to see a genetic counsellor. She was not a patient of the bleeding disorders clinic so we had to go to our GP to have a referral sent to our clinic. Then referral was sent to genetic counselling and a tele health was set up to discuss with us. We discussed whether she wanted to do further testing than just carrier status and how she was feeling about finding out. Our daughter was 14 by now and a great age to understand what was being done and the implications around finding out. The blood was drawn and sent back to that far off lab that would set a course for another of our children. We had added another daughter to our family who was 8 at this time. While we waited for the test results for our oldest, circumstances were in the works for our younger daughter to find out her carrier status much quicker and more directly.
I knew I had the mutation and was a carrier. Outside of hemorrhaging after the birth of my two hemophiliacs (but not my non hemophiliacs), I did not have the typical symptoms that a woman with low factor levels could have so I always thought, as did the care team, that my factor levels were normal. I had to have a minor medical procedure, but it was one where the doctors were not comfortable proceeding without knowing my factor levels and so, about 12 years into our hemophilia journey, my factor levels were tested and I was found to be a mild hemophiliac. The decision was quickly made that our youngest daughter should also have her factor levels checked and when the results came back with her also being diagnosed with mild hemophilia, we bypassed the genetic counsellor and she became a factor first card carrying, medic alert wearing, patient of the bleeding disorders clinic. Through all of that we were still waiting for our oldest daughters genetic results but after finding my factor levels were low and our youngest daughters levels were low the probability of her being a carrier was very low. Several months after the blood draw I got a phone call confirming our suspicions that she was not a carrier.
Our experience with our girls diagnoses was very different, for obvious reasons, than the experience of our son. With our son it was so automatic. You get the blood test results and you are automatically entered into this system. While each hemophiliac experience is different, the care plan is set up and gets tweaked according to your specific bleed patterns and levels. With our girls there was more advocacy required as, in the past, the issues surrounding women and girls bleeding issues and carrier status have mostly been relegated to the issues surrounding giving birth to a hemophiliac. I am saddened by the experience of some of the women who have struggled to receive timely diagnosis for their or their daughters bleeding issues in the past. That was not our experience and hopefully with continued advocacy and research on the needs of women and girls that will not be the experience of those who come after us. If you or your daughters are experiencing unusual bleeding be it heavy periods or even joint and muscle injuries that seem outside of the realm of normal, don’t hesitate to talk to the care team. The carrier mothers and sisters of hemophiliacs are not automatically a part of the bleeding disorders patient roster, it is up to us to bring up the issues we are experiencing and the questions we have to the care team.
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Run4Your Cause Virtual Challenge
Date: June 1 to June 21, 2021 Anytime, Anywhere!
CHS-MC is participating in the 2021 Run4YourCause! This is a healthy living event that you can run or walk for your charity!
Here’s how it works:
- You register for a Virtual Run/Walk
(Choose from 3k, 5k or 10k).
- Choose your Cause from our list of partners and Fundraise if you’re able.
- You will receive an email from Runkeeper, inviting you to use their App. This is optional, you can use whatever tracking system you’re comfortable with.
- At the end of your Run/Walk, take a screen shot of your results and a picture of you wearing your medal.
- Sign in to Race Roster, enter your time and send your screen shot.
- Share your picture, Congratulations!
Information and Registration
We hope our families will sign up for the 2021 R4YC Virtual Challenge. This is a great way to engage in Social Solidarity while practicing Physical Distancing!
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Women and girls with hemophilia | Virtual Summit 2020
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