Genetic Analysis of Gray Platelet Syndrome

NCT00069680 | Completed

• 2 other identifiers: 03031303-HG-0313
• Study Type: observational
• Target: 123
• Locations: 1 country
• Sites: 1

Brief Summary

This study will identify and characterize the gene or genes responsible for Gray Platelet syndrome (GPS). Platelets are small blood cells that stick on injured blood vessels to form a plug and stop bleeding. When a blood vessel is injured (like a cut on a finger), platelets release the proteins stored in their sacs to help form a blood clot. Patients with GPS bleed longer than other people because their platelets lack some of these protein-carrying sacs. Platelets without sacs look pale gray under the microscope rather than pink, giving the syndrome its name. Except for rare patients with severe hemorrhage, the bleeding tendency in GPS is usually mild to moderate, with patients experiencing easy bruising, nosebleeds, and, in women, excessive menstrual bleeding. Patients with GPS and members of their family with GPS may be eligible for this study. Participants will provide a personal and family medical history and will have blood drawn. About 1 to 2 tablespoons of blood will be drawn in adults, and about 1 teaspoon in children. The blood will be analyzed for genes that cause GPS

Conditions

Genetic Linkage; Myelofibrosis

Keywords

Gene Identification; Linkage Analysis; Homozygosity Mapping; Gray Platelet Syndrome; GPS; Platelet Function Defect; Bleeding Disorder

Eligibility Criteria

• Age: 1 Year - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Enrollment in this study will be limited to patients diagnosed with GPS and their unaffected relatives. The diagnosis will be based upon absence or marked reduction of platelet Alpha-granules on electron microscopy.

You may not qualify if:

• Patients with reduction in both Alpha and Beta granules will be excluded, since this is probably a separate disease.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (4)

• Raccuglia G. Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med. 1971 Dec;51(6):818-28. doi: 10.1016/0002-9343(71)90311-1. No abstract available.

  PMID: 5129551 BACKGROUND

• White JG. Ultrastructural studies of the gray platelet syndrome. Am J Pathol. 1979 May;95(2):445-62.

  PMID: 453324 BACKGROUND

• Levy-Toledano S, Caen JP, Breton-Gorius J, Rendu F, Cywiner-Golenzer C, Dupuy E, Legrand Y, Maclouf J. Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function. J Lab Clin Med. 1981 Dec;98(6):831-48.

  PMID: 6458643 BACKGROUND

• Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13.

  PMID: 20709904 DERIVED

MeSH Terms

Conditions

Primary Myelofibrosis; Gray Platelet Syndrome; Hemostatic Disorders

Condition Hierarchy (Ancestors)

Myeloproliferative Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Blood Platelet Disorders; Blood Coagulation Disorders, Inherited; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders

Study Officials

• Meral Gunay-Aygun, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 29, 2003
• First Posted: September 30, 2003
• Study Start: September 29, 2003
• Study Completion: May 17, 2018
• Last Updated: October 22, 2018

Record last verified: 2018-05-17

Locations

US (1)