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Glanzmann thrombasthenia(GT; BDPLT2; GT1)

MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
Synonyms: BLEEDING DISORDER, PLATELET-TYPE, 2; Diacyclothrombopathia 2B 3A; Glanzmann thrombasthenia type A; Glanzmann's thrombasthenia; PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia; Thrombasthenia of Glanzmann and Naegeli; Thrombasthenia of Glanzmann and Naegeli, ITGA2B-Related; Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related
SNOMED CT: Hereditary hemorrhagic thrombasthenia (32942005); Glanzmann's syndrome (32942005); Glanzmann's thrombasthenia (32942005); Glanzmann's disease (32942005); Hereditary thromboasthenia (32942005); Glanzmann thromboasthenia (32942005); Glanzmann-Naegeli disorder (32942005); Thrombasthenia (32942005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0100326
OMIM®: 273800; 607759
OMIM® Phenotypic series: PS273800
Orphanet: ORPHA849

Definition

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Subdural hemorrhage
MedGen UID:
6775
Concept ID:
C0018946
Pathologic Function
Hemorrhage occurring between the dura mater and the arachnoid mater.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Hemorrhage occurring within the skull.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Abnormal platelet count
MedGen UID:
488925
Concept ID:
C0580317
Finding
Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.
Impaired platelet aggregation
MedGen UID:
383786
Concept ID:
C1855853
Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Decreased platelet glycoprotein IIb-IIIa
MedGen UID:
892761
Concept ID:
C4021767
Finding
Decreased cell membrane concentration of glycoprotein IIb-IIIa.
Excessive bleeding from superficial cuts
MedGen UID:
868218
Concept ID:
C4022610
Pathologic Function
An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.
Impaired ristocetin-induced platelet aggregation
MedGen UID:
868749
Concept ID:
C4023154
Pathologic Function
Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
Impaired collagen-induced platelet aggregation
MedGen UID:
870264
Concept ID:
C4024703
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Impaired epinephrine-induced platelet aggregation
MedGen UID:
870285
Concept ID:
C4024727
Finding
Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
Impaired ADP-induced platelet aggregation
MedGen UID:
870824
Concept ID:
C4025282
Finding
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
Impaired clot retraction
MedGen UID:
1376447
Concept ID:
C4476985
Finding
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.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlanzmann thrombasthenia
Follow this link to review classifications for Glanzmann thrombasthenia in Orphanet.

Professional guidelines

PubMed

Fiore M, Giraudet JS, Alessi MC, Falaise C, Desprez D, d'Oiron R, Voisin S, Hurtaud MF, Boutroux H, Saultier P, Lavenu-Bombled C, Bagou G, Dubucs X, Chauvin A, Leroy C, Meckert F, Kerbaul F, Giraud N, Pühler A, Rath A
Orphanet J Rare Dis 2023 Jun 29;18(1):171. doi: 10.1186/s13023-023-02787-2. PMID: 37386449Free PMC Article
Nurden P, Stritt S, Favier R, Nurden AT
Haematologica 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. [Epub ahead of print] PMID: 33147934Free PMC Article
Poon MC, Di Minno G, d'Oiron R, Zotz R
Transfus Med Rev 2016 Apr;30(2):92-9. Epub 2016 Jan 30 doi: 10.1016/j.tmrv.2016.01.001. PMID: 26968829

Recent clinical studies

Etiology

Han X, Li C, Zhang S, Hou X, Chen Z, Zhang J, Zhang Y, Sun J, Wang Y
Thromb Res 2020 Dec;196:500-509. Epub 2020 Oct 8 doi: 10.1016/j.thromres.2020.10.005. PMID: 33091704
Goodnough LT, Levy JH
Semin Thromb Hemost 2016 Mar;42(2):125-32. Epub 2016 Feb 2 doi: 10.1055/s-0035-1569068. PMID: 26838698
Norman JE, Westbury SK, Jones ML, Mumford AD
Int J Lab Hematol 2014 Jun;36(3):326-33. doi: 10.1111/ijlh.12211. PMID: 24750679
Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:161-5. doi: 10.1111/j.1365-2516.2012.02842.x. PMID: 22726101
Siddiq S, Clark A, Mumford A
Haemophilia 2011 Sep;17(5):e858-69. Epub 2011 Apr 4 doi: 10.1111/j.1365-2516.2011.02516.x. PMID: 21457404

Diagnosis

Nurden P, Stritt S, Favier R, Nurden AT
Haematologica 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. [Epub ahead of print] PMID: 33147934Free PMC Article
Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J; ClinGen Platelet Disorder Variant Curation Expert Panel
Haematologica 2020 Apr;105(4):888-894. Epub 2020 Mar 5 doi: 10.3324/haematol.2018.214239. PMID: 32139434Free PMC Article
Norman JE, Westbury SK, Jones ML, Mumford AD
Int J Lab Hematol 2014 Jun;36(3):326-33. doi: 10.1111/ijlh.12211. PMID: 24750679
Nurden AT, Pillois X, Wilcox DA
Semin Thromb Hemost 2013 Sep;39(6):642-55. Epub 2013 Aug 8 doi: 10.1055/s-0033-1353393. PMID: 23929305Free PMC Article
Nurden AT, Freson K, Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:154-60. doi: 10.1111/j.1365-2516.2012.02856.x. PMID: 22726100

Therapy

Goodnough LT, Levy JH
Semin Thromb Hemost 2016 Mar;42(2):125-32. Epub 2016 Feb 2 doi: 10.1055/s-0035-1569068. PMID: 26838698
Valera MC, Kemoun P, Cousty S, Sie P, Payrastre B
J Oral Pathol Med 2013 Feb;42(2):115-24. Epub 2012 May 15 doi: 10.1111/j.1600-0714.2012.01151.x. PMID: 22583386
Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:161-5. doi: 10.1111/j.1365-2516.2012.02842.x. PMID: 22726101
Siddiq S, Clark A, Mumford A
Haemophilia 2011 Sep;17(5):e858-69. Epub 2011 Apr 4 doi: 10.1111/j.1365-2516.2011.02516.x. PMID: 21457404
Nurden AT, Nurden P
Curr Opin Hematol 2006 May;13(3):157-62. doi: 10.1097/01.moh.0000219661.80785.e3. PMID: 16567959

Prognosis

Naderi M, Mirzaei I, Seidizadeh O, Moud AP, Sarani H, Avan A, Taheri M, Jahantigh D, Keramati MR, Sohrabi T
Haemophilia 2024 May;30(3):752-764. Epub 2024 Mar 4 doi: 10.1111/hae.14971. PMID: 38439143
Nakajima Y, Yada K, Ogiwara K, Furukawa S, Shimonishi N, Shima M, Nogami K
Pediatr Int 2021 Feb;63(2):160-167. Epub 2020 Dec 5 doi: 10.1111/ped.14378. PMID: 32640065
van Geffen JP, Brouns SLN, Batista J, McKinney H, Kempster C, Nagy M, Sivapalaratnam S, Baaten CCFMJ, Bourry N, Frontini M, Jurk K, Krause M, Pillitteri D, Swieringa F, Verdoold R, Cavill R, Kuijpers MJE, Ouwehand WH, Downes K, Heemskerk JWM
Haematologica 2019 Jun;104(6):1256-1267. Epub 2018 Dec 13 doi: 10.3324/haematol.2018.198853. PMID: 30545925Free PMC Article
Bannow BS, Konkle BA
Transfus Med Rev 2018 Oct;32(4):237-243. Epub 2018 Jul 12 doi: 10.1016/j.tmrv.2018.06.003. PMID: 30097224
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article

Clinical prediction guides

Fribourg E, Castet S, Fénelon M, Huguenin Y, Fricain JC, Chuy V, Catros S
Haemophilia 2024 Jul;30(4):943-949. Epub 2024 Jun 2 doi: 10.1111/hae.15055. PMID: 38825767
Schönichen C, Montague SJ, Brouns SLN, Burston JJ, Cosemans JMEM, Jurk K, Kehrel BE, Koenen RR, Ní Áinle F, O'Donnell VB, Soehnlein O, Watson SP, Kuijpers MJE, Heemskerk JWM, Nagy M
Arterioscler Thromb Vasc Biol 2023 Sep;43(9):1700-1712. Epub 2023 Jul 6 doi: 10.1161/ATVBAHA.122.318767. PMID: 37409530Free PMC Article
Nakajima Y, Yada K, Ogiwara K, Furukawa S, Shimonishi N, Shima M, Nogami K
Pediatr Int 2021 Feb;63(2):160-167. Epub 2020 Dec 5 doi: 10.1111/ped.14378. PMID: 32640065
van Geffen JP, Brouns SLN, Batista J, McKinney H, Kempster C, Nagy M, Sivapalaratnam S, Baaten CCFMJ, Bourry N, Frontini M, Jurk K, Krause M, Pillitteri D, Swieringa F, Verdoold R, Cavill R, Kuijpers MJE, Ouwehand WH, Downes K, Heemskerk JWM
Haematologica 2019 Jun;104(6):1256-1267. Epub 2018 Dec 13 doi: 10.3324/haematol.2018.198853. PMID: 30545925Free PMC Article
Coller BS, Shattil SJ
Blood 2008 Oct 15;112(8):3011-25. doi: 10.1182/blood-2008-06-077891. PMID: 18840725Free PMC Article

Recent systematic reviews

Bacci M, Ferretti A, Marchetti M, Alberelli MA, Falanga A, Lodigiani C, De Candia E
Blood Transfus 2022 Sep;20(5):420-432. Epub 2022 Jan 8 doi: 10.2450/2021.0119-21. PMID: 34369869Free PMC Article
Punt MC, Schuitema PCE, Bloemenkamp KWM, Kremer Hovinga ICL, van Galen KPM
Haemophilia 2020 Mar;26(2):216-227. Epub 2020 Jan 31 doi: 10.1111/hae.13927. PMID: 32004416Free PMC Article
Siddiq S, Clark A, Mumford A
Haemophilia 2011 Sep;17(5):e858-69. Epub 2011 Apr 4 doi: 10.1111/j.1365-2516.2011.02516.x. PMID: 21457404

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