pseudohemophilia
English
[edit]Etymology
[edit]From international scientific vocabulary, reflecting New Latin combining forms: pseudo- + hemophilia.
Pronunciation
[edit]IPA(key): /ˌsudoʊˌhiːməˈfiːliə/
Noun
[edit]pseudohemophilia (countable and uncountable, plural pseudohemophilias)
- (medicine, dated) Any of several disorders of prolonged blood clotting time, seeming clinically similar to the hemophilias, but pathophysiologically different therefrom, without the same clotting factor derangements as found therein; at least some of these disorders are types of von Willebrand disease, and nowadays would be called and diagnosed thus.
- 1959, Hermansky F, Pudlak P, “Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies”, in Blood, volume 14, number 2, , →PMID, pages 162–169:
- On examining hemostasis, the only consistent abnormal laboratory finding was a prolonged bleeding time, so that the hemorrhagic disorder fell into the group of so-called pseudohemophilias.
- 2013, Gadisseur A, Berneman Z, Schroyens W, Michiels JJ, “Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene”, in World J Hematol, volume 2, number 4, , pages 99–108:
- The original description of a novel severe bleeding disorder as "Hereditary Pseudohemophilia" by Erik von Willebrand can currently be labelled as von Willebrand disease (VWD) type 3. […] [¶] All five daughters, who died from uncontrolled bleedings, very likely would have been homozygous for the deletion in exon 18 consistent with pseudohemophilia, now called VWD type 3. […] [¶] These data demonstrate that the original family S, described by Erik von Willebrand as pseudohemophilia A, has to be diagnosed as autosomal recessive VWD type 3 caused by a homozygous null mutation (one nuclotide deletion of exon 18).