Patient case (clinical description): A 23-year-old woman comes to the emergency department with a history of nosebleeds lasting for 1 hour. She has a history of heavy menses as well as occasional gum bleeding following dental procedures. Her mother also has a history of menorrhagia. Laboratory tests reveal increased bleeding time and slightly increased partial thromboplastin time. She has no other medical conditions and is otherwise healthy. Her coagulation study shows CB = 0.30 IU/mL and FVIII:C = 0.37 IU/mL. She is not smoking or using any kind of illicit drugs. She uses alcohol occasionally and is in ra elationship with her boyfriend for the past 2 years.

Patient's own account: I had to rush to the ER because of a non-stop nosebleed that had been on for 1 hour. As a 23-year-old, I always had heavy periods, and sometimes, my gums would bleed after going to the dentist or brushing my teeth. I thought that it was not very alarming since my mom also had heavy periods. I did some lab tests that showed that I had increased bleeding time and long clotting time. Otherwise, I'm pretty healthy, and I don't smoke or take any kind of drugs. I drink only at parties from time to time. I have been with my boyfriend for the last 2 years. I did a coagulation study and I got the following results: CB = 0.30 IU/mL and FVIII:C = 0.37 IU/mL.

Clinical trial: ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

Eligibility criteria:
Participants who meet the following inclusion criteria and none of the exclusion criteria
        are eligible for enrollment in the cohort study.

        Inclusion Criteria

          1. Any age

          2. Having any congenital or acquired non-neoplastic hematologic disorder; or

          3. Having a bleeding phenotype as indicated by an age adjusted abnormal ISTH Bleeding
             Assessment Tool score with an unknown diagnosis; or

          4. Connective tissue disorder with bleeding tendency as indicated by an age adjusted
             abnormal ISTH Bleeding Assessment Tool score.

        Exclusion Criteria

          1. Does not qualify for inclusion in a cohort

          2. Unable to give informed consent or assent

          3. Unwilling to perform study procedures

        Cohort Participant Selection Each participant is to be enrolled in the cohort for which
        they qualify as defined below.

        Hemophilia Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

          1. Factor VIII or factor IX activity < 50%, without another explanation for low clotting
             factor other than congenital hemophilia or being a known carrier for congenital
             hemophilia; OR

          2. Being a known carrier for congenital hemophilia with a factor VIII or factor IX
             activity >50% with or without a bleeding phenotype as indicated by an age-adjusted
             abnormal ISTH Bleeding Assessment Tool score OR

          3. Known congenital hemophilia that have a factor level >50% after receiving vector.

          4. Acquired hemophilia

        Exclusion Criteria None

        Von Willebrand Disease Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

        1. Meeting the definition of VWD or low VWF per most recent international guidelines

        Exclusion Criteria None

        Congenital Platelet Disorder Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

          1. Abnormalities of platelet function a. Glanzmann thrombasthenia (GPIIb or GPIIIa) b.
             Bernard-Soulier syndrome (GPIbalpha, GPIbbeta, or GPIX)

          2. Abnormalities of platelet granules

          3. Abnormalities of platelet signal transduction

          4. Abnormalities of platelet secretion

          5. Collagen Receptor Defect

          6. ADP Receptor Defect

          7. Thromboxane Receptor Defect

          8. Giant Platelet Disorder

          9. Abnormalities in platelet aggregation testing due to another or unknown cause (not
             drug related)

        Exclusion Criteria Congenital platelet disorders secondary to medications or other
        substances

        Rare Bleeding Disorders Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

        1. Have an established Rare Coagulation Disorder (RCD) diagnosis of one of the following:

          1. PAI-1 deficiency

          2. Factor I, II, V, VII, X, XI, XIII deficiencies

          3. Combined FV and FVIII deficiency

        Exclusion Criteria None

        Bleeding NOS Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

          1. Have a bleeding phenotype as indicated by an age-adjusted abnormal ISTH Bleeding
             Assessment Tool score with an unknown diagnosis; OR

          2. Connective tissue disorder with bleeding tendency as indicated by an age-adjusted
             abnormal ISTH Bleeding Assessment Tool score

        Exclusion Criteria None

        Thrombosis/Thrombophilia Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

          1. Have arterial or venous thrombosis

          2. Patients with a known congenital or acquired thrombophilia with or without a
             thrombosis a. Established genetic factors: i. Protein C deficiency ii. Protein S
             deficiency iii. Antithrombin deficiency iv. Factor V Leiden v. Prothrombin gene
             mutation b. Rare genetic factors i. Dysfibrinogenemias ii. Hyperhomocysteinemia c.
             Indeterminate genetic factors i. Elevated factor VIII ii. Elevated factor IX iii.
             Elevated factor XI iv. Plasminogen deficiency v. Decreased tissue plasminogen
             activator vi. Elevated lipoprotein (a) d. Acquired thrombophilias i. Lupus
             anticoagulant ii. Anti-cardiolipin antibodies iii. Antiphospholipid syndrome

        Exclusion Criteria 1. Acquired thrombophilia secondary to medications (birth control pills
        or hormone replacement therapy, overweight or obesity, smoking, cancer, pregnancy, surgery,
        injury, prolonged inactivity/bedrest, heart failure, inflammatory bowel disease, or kidney
        disease

        Non-Neoplastic Hematologic Conditions Cohort Inclusion Criteria

        Participants who meet the following inclusion criteria are eligible for enrollment into
        this cohort:

        1. Having any congenital or acquired non-neoplastic hematologic disorder not included in
        any other cohort

        Exclusion Criteria None
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.



Eligibility (NLI label): Entailment