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Genotypic and phenotypic analysis of adolescents with heavy menstrual bleeding and low Von Willebrand activity


Patients must have Von Willebrand Factor deficiency.


This is a research study for patients diagnosed with heavy menstrual bleeding (HMB) and low Von Willebrand Factor (VWF). Menstruation, also known as a period, is the regular discharge of blood and tissues from the uterus. HMB is having a heavier amount of discharge during menstrual period. Low Von Willebrand Factor means that the participant has lower level of a blood protein that is important for clotting of blood and so, the participant is at a higher risk for bleeding.

The purpose of this project is to study the genetic differences of adolescent females with HMB and low VWF activity and compare the genetic differences with their bleeding manifestations, response to medications and outcome.

Eligibility Criteria

  • Ages eligible for study: up to 21 years old (Child, Adult)
  • Sexes Eligible for Study: Female
  • Females under the age of 21 years old with heavy menstrual bleeding and low von willebrand factor
  • Post-menarchal females less than 21 years of age
  • HMB defined as PBAC score greater than 100
  • VWF:Activity more than or equal to 30 and less than or equal to 50 IU/dL x 2
  • VWF: Activity /VWF:Ag ratio greater than or equal to 0.6
  • Normal VW multimers, if performed

Detailed inclusion and exclusion criteria as listed on