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.