Glanzmann thrombasthenia
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Glanzmann thrombasthenia is a bleeding disorder that is characterised 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.
Descrizione
Glanzmann thrombasthenia is a bleeding disorder that is characterised 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.
About 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).
The 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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Deficiency of glycoprotein complex IIb-IIIa
Deficiency of platelet fibrinogen receptor
Glanzmann disease
Glanzmann-Naegeli disorder
Glycoprotein IIb/IIIa defect
Hereditary hemorrhagic thrombasthenia
Hereditary thrombasthenia
Platelet fibrinogen receptor deficiency
Ulteriori letture e riferimenti
- Glanzmann thrombasthenia; MedlinePlus, National Library of Medicine.
- Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood. 2011 Dec 1;118(23):5996-6005. doi: 10.1182/blood-2011-07-365635. Epub 2011 Sep 13.
- Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Negrier C, Nugent D, Oiron RD, Rand ML, Sie P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C. Expanding the Mutation Spectrum Affecting alphaIIbbeta3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776.
- Nurden AT, Pillois X, Wilcox DA. Glanzmann thrombasthenia: state of the art and future directions. Semin Thromb Hemost. 2013 Sep;39(6):642-55. doi: 10.1055/s-0033-1353393. Epub 2013 Aug 8.
- Pillitteri D, Pilgrimm AK, Kirchmaier CM. Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. Transfus Med Hemother. 2010;37(5):268-277. doi: 10.1159/000320258. Epub 2010 Sep 15.
- Sandrock-Lang K, Oldenburg J, Wiegering V, Halimeh S, Santoso S, Kurnik K, Fischer L, Tsakiris DA, Sigl-Kraetzig M, Brand B, Buhrlen M, Kraetzer K, Deeg N, Hund M, Busse E, Kahle A, Zieger B. Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. Thromb Haemost. 2015 Apr;113(4):782-91. doi: 10.1160/TH14-05-0479. Epub 2014 Nov 6.
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