Abnormal alpha granules

MedGen UID:: 868492
•Concept ID:: C4022886
•: Anatomical Abnormality

HPO:	HP:0012483

Definition

Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal alpha granules

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of thrombocytes
    - Abnormal platelet morphology
      - Abnormal platelet granules
        Abnormal alpha granules
        Abnormal alpha granule content
        Abnormal alpha granule distribution
        Abnormal number of alpha granules
        Absence of alpha granules
        Reduced platelet alpha granules

Professional guidelines

PubMed

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.

Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A
Haematologica 2013 Jun;98(6):868-74. Epub 2012 Oct 25 doi: 10.3324/haematol.2012.075861. PMID: 23100277 Free PMC Article

Platelet gel for the treatment of traumatic loss of finger substance.

Balbo R, Avonto I, Marenchino D, Maddalena L, Menardi G, Peano G
Blood Transfus 2010 Oct;8(4):255-9. doi: 10.2450/2009.0129-09. PMID: 20967166 Free PMC Article

Quebec platelet disorder: features, pathogenesis and treatment.

Diamandis M, Veljkovic DK, Maurer-Spurej E, Rivard GE, Hayward CP
Blood Coagul Fibrinolysis 2008 Mar;19(2):109-19. doi: 10.1097/MBC.0b013e3282f41e3e. PMID: 18277131

See all (5)

Recent clinical studies

Clinical prediction guides

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases.

Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, Bertoni F, Cramer EM
Thromb Haemost 2003 Nov;90(5):893-7. doi: 10.1160/TH03-02-0120. PMID: 14597985

Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes.

Berger G, Caen JP, Berndt MC, Cramer EM
Blood 1993 Nov 15;82(10):3034-44. PMID: 7693034

Alpha-granule pool of glycoprotein IIb-IIIa in normal and pathologic platelets and megakaryocytes.

Cramer EM, Savidge GF, Vainchenker W, Berndt MC, Pidard D, Caen JP, Massé JM, Breton-Gorius J
Blood 1990 Mar 15;75(6):1220-7. PMID: 2310822

Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes.

Cramer EM, Vainchenker W, Vinci G, Guichard J, Breton-Gorius J
Blood 1985 Dec;66(6):1309-16. PMID: 3877532

See all (4)