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Impaired clot retraction

MedGen UID:
1376447
Concept ID:
C4476985
Finding
HPO: HP:0031126

Definition

Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired clot retraction

Conditions with this feature

Glanzmann thrombasthenia
MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.
Glanzmann thrombasthenia 2
MedGen UID:
1782592
Concept ID:
C5543273
Disease or Syndrome
Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.

Professional guidelines

PubMed

al-Sheyyab M, Jarrah N, Younis E, Shennak MM, Hadidi A, Awidi A, el-Shanti H, Ajlouni K
Eur J Pediatr 2001 Apr;160(4):243-6. doi: 10.1007/s004310000704. PMID: 11317648

Recent clinical studies

Etiology

Kasahara K, Kaneda M, Miki T, Iida K, Sekino-Suzuki N, Kawashima I, Suzuki H, Shimonaka M, Arai M, Ohno-Iwashita Y, Kojima S, Abe M, Kobayashi T, Okazaki T, Souri M, Ichinose A, Yamamoto N
Blood 2013 Nov 7;122(19):3340-8. Epub 2013 Sep 3 doi: 10.1182/blood-2013-04-491290. PMID: 24002447

Diagnosis

Polk OD, Kletter GG, Smith J, Castro O
South Med J 1982 Mar;75(3):374-5. doi: 10.1097/00007611-198203000-00036. PMID: 7063920

Therapy

Polk OD, Kletter GG, Smith J, Castro O
South Med J 1982 Mar;75(3):374-5. doi: 10.1097/00007611-198203000-00036. PMID: 7063920

Clinical prediction guides

Egot M, Lasne D, Poirault-Chassac S, Mirault T, Pidard D, Dreano E, Elie C, Gandrille S, Marchelli A, Baruch D, Rendu J, Fauré J, Flaujac C, Gratacap MP, Sié P, Gaussem P, Salomon R, Baujat G, Bachelot-Loza C
Br J Haematol 2021 Mar;192(5):909-921. Epub 2021 Feb 2 doi: 10.1111/bjh.17346. PMID: 33528045
Kasahara K, Kaneda M, Miki T, Iida K, Sekino-Suzuki N, Kawashima I, Suzuki H, Shimonaka M, Arai M, Ohno-Iwashita Y, Kojima S, Abe M, Kobayashi T, Okazaki T, Souri M, Ichinose A, Yamamoto N
Blood 2013 Nov 7;122(19):3340-8. Epub 2013 Sep 3 doi: 10.1182/blood-2013-04-491290. PMID: 24002447

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