Diagnosis

In 2014, the number of persons in the Registry was 3,161. The 2014 Registry participants account for 7.3% of the 43,522 unique participants with bleeding disorders who receive care at a U.S. HTC, as counted in the Community Counts HTC PP1. The distribution of the Registry participants across the United States is shown in Figure 1.The three most prevalent diagnoses were hemophilia A (n=1,855, 59%), hemophilia B (n=485, 15%), and VWD, type 1 (n =301, 10%). Other diagnoses each accounted for 2% or less among total participants in the Registry (Table 1). Approximately 66% of participants have a known family history of a bleeding disorder, 26% do not have a history (8% unknown). The specific genetic mutation causing the participant’s bleeding disorder was known for 32%.  Forty-six percent had not had genetic testing or the results of testing did not reveal a specific mutation. For 22%, the history of genetic testing for a specific mutation was unknown (data not shown).

Table 1. The Registry and HTC PP participants by diagnosis, 2014

The Registry and HTC PP participants by diagnosis, 2014.
The Registry HTC PP
Diagnosis N =

3,161

(%) N =

43,522

(%)
Alpha-2 antiplasmin deficiency ≤5 (<1) 5 0.00%
Bernard Soulier syndrome 6 (<1) 46 0.10%
Blood coagulation disorder with impaired clot retraction time ≤5 (<1) 55 0.10%
Blood coagulation disorder with prolonged bleeding time 9 (<1) 551 1.30%
Blood coagulation disorder with prolonged coagulation time ≤5 (<1) 207 0.50%
Factor I, hereditary 10 (<1) 163 0.40%
Factor II, hereditary ≤5 (<1) 41 0.10%
Factor V, hereditary 6 (<1) 296 0.70%
Factor V-VIII, hereditary ≤5  (<1) 14 0.00%
Factor VII, hereditary 36 (1) 1167 2.70%
Factor X, hereditary 9 (<1) 139 0.30%
Factor XI, hereditary 22 (<1) 745 1.70%
Factor XIII, hereditary 14 (<1) 153 0.40%
Glanzmann thrombasthenia 14 (<1) 193 0.40%
Grey platelet syndrome ≤5  (<1) 7 0.00%
Hemophilia A 1855 (59) 15474 35.60%
Hemophilia B 485 (15) 4857 11.20%
Inherited thrombocytopenia ≤5 (<1) 347 0.80%
Platelet function disorder, hereditary 49 (2) 1701 3.90%
Platelet release defect ≤5 (<1) 43 0.10%
Platelet storage pool disease 14 (<1) 2130 4.90%
VWD2, type 1 301 (10) 11702 26.90%
VWD, type 1C 6 (<1) 48 0.10%
VWD, type 2, type unknown 11 (<1) 333 0.80%
VWD, type 2A 53  (2) 673 1.50%
VWD, type 2B 23 (<1) 402 0.90%
VWD, type 2M 50  (2) 337 0.80%
VWD, type 2N ≤5 (<1) 101 0.20%
VWD, type 3 53  (2) 359 0.80%
VWD, other 6 (<1) 108 0.20%
VWD, unknown 38  (1) 859 2.00%
More than one of these 73 (2) N/A

Includes 42 participants from December 2013


Footnotes

  1. HTC PP data reported as of June 30, 2016
  2. VWD= von Willebrand Disease