Introduction
Hemophilia A and B are X-linked recessive conditions due to deficiencies of factors VIII and IX respectively. Affected males are prone to abnormal bleeding from trivial causes. Several studies over the past few decades have shown that hemophilia carriers also have a bleeding tendency.1-3 Due to random X chromosome inactivation, female hemophilia carriers can have wide ranging factor activity levels.2,4 Approximately one-fourth of hemophilia carriers seen at hemophilia treatment centers (HTCs) have factor activity levels less than 40 IU/dL and are now classified as having hemophilia.1,4 Even amongst carriers seen at HTCs with factor activity levels greater than 40 IU/dL, about one-fourth report abnormal bleeding scores (BLS).1 Thus, amongst hemophilia carriers, just less than one-half either have hemophilia and/or report abnormal BLS.
To date, studies of hemophilia carriers have almost exclusively focused on women over 18 years of age. Little is known about bleeding symptoms of hemophilia carriers during childhood. Only one study has included a significant sample size of children.1 It showed that children were less likely than adults to have an abnormal BLS for age. Additional details such as the proportion of children who had factor levels less than 40 IU/dl, or the effects of race, ethnicity, type of hemophilia, or mutation on BLS were not included.
The American Thrombosis and Hemostasis Network (ATHN) is an organization whose purpose is to improve the lives of people with bleeding and clotting disorders. To that end, ATHN sponsors a HIPPA-compliant, de-identified dataset in which subjects agree to submit their health information. Over 140 Hemophilia Treatment Centers (HTCs) across the United States have collected and submitted data into the ATHNdataset. Over 60,000 people with bleeding or clotting disorders have submitted data. Of this, approximately 3300 are hemophilia carriers, including 743 in the pediatric age group.
The purpose of this investigation is to characterize hemophilia carriers under 18 years of age enrolled in the ATHNdataset.