Macrothrombocytopenia, familial, Bernard-Soulier type

MedGen UID:: 864568
•Concept ID:: C4016131
•: Finding

Synonym:	MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE

OMIM®:	138720

Recent clinical studies

Diagnosis

Like Father, Like Daughter: A Family With a Constitutional Thrombocytopenia Variant Due to a Novel Heterozygous Missense Mutation in GP1BA.

Light J, Quezada G
J Pediatr Hematol Oncol 2025 Jan 1;47(1):e62-e64. Epub 2024 Dec 31 doi: 10.1097/MPH.0000000000002980. PMID: 39737636

The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.

Leinøe E, Brøns N, Rasmussen AØ, Gabrielaite M, Zaninetti C, Palankar R, Zetterberg E, Rosthøj S, Ostrowski SR, Rossing M
J Thromb Haemost 2021 Nov;19(11):2884-2892. Epub 2021 Aug 11 doi: 10.1111/jth.15479. PMID: 34333846 Free PMC Article

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

Di Pumpo M, Noris P, Pecci A, Savoia A, Seri M, Ceresa IF, Balduini CL
Haematologica 2002 Sep;87(9):943-7. PMID: 12217806

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi, Iolascon A
Blood 2001 Mar 1;97(5):1330-5. doi: 10.1182/blood.v97.5.1330. PMID: 11222377

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Macrothrombocytopenia, familial, Bernard-Soulier type

Recent clinical studies

Diagnosis

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