A carrier’s thoughts and feelings

I am a carrier, but I carry neither good news nor a bundle of provisions on my back. I am a carrier of hemophilia. Technically, I know one of my genes is mutated. Emotionally, I regret that my children could inherit not only my height or eye color. For a long time I’ve thought about whether I had the “right” to risk passing on this defect and if it was fair that my son “suffer” something that, despite having no physical signs of the disorder (and perhaps precisely for that reason), I have been suffering from the moment I realized I was a carrier. I even started to think that all science wanted me to do was question myself about something so essential for the majority of women as is the right to maternity. I wished then I hadn’t known about my carrier status, that way I could feel less responsible. I didn’t want my pregnancy to be a game of chance that meant waiting to see if I was lucky and it was the other chromosome’s “turn”. When you have a child, it’s not only about those “little blue eyes” and “kiss curls”. And less so about it being a “hemophiliac”. It’s Oscar or Javier or Maria. It’s a PERSON, even if their eyes are brown and their blood takes a little longer to clot.

Caring for carriers

Treating carriers begins at the start of the diagnostic process so as to be able to plan for the future. All carriers need detailed information about what their condition means, what it implies and different options modern technology and resources can offer them. Each person will need comprehensive and personalized social and psychological support, especially during pregnancy or prenatal diagnosis or when trying to find a partner, plan a family, etc. Furthermore, symptomatic carriers often have additional doubts and necessities. A simple blood analysis can determine factor-activity levels in the plasma and, generally speaking, the severity of bleeding episodes in each patient. The majority of hemophilic carriers fall within the normal range for factor-activity levels (50 – 150%) or are slightly below this range. However, these levels can vary a lot or even reach very low levels (10 –20% below the normal limits), which may cause excessive bleeding during menstrual periods, surgery, severe traumatisms, dental extractions or while giving birth. Depending on the levels of clotting factors VIII and IX, as well as the type of procedure to be performed, it may be necessary in the aforementioned circumstances to use the same products used by hemophiliacs (factor concentrates, desmopressin, etc.) prior to such procedures so as to avoid hemorrhaging. In cases of excessive menstrual bleeding, birth-control-related hormonal treatment may constitute an option when used with desmopressin and oral anti-fibrinolytics. References: “Hemofilia: portadoras” Real Fundación Victoria Eugenia. Federación Española de Hemofilia. Servicio de publicaciones-número 00-2001. XXIII Congreso de la Federación Mundial de Hemofilia . La Haya, Países Bajos, 17-21 de mayo de 1998.