Gray platelet syndrome
نویسندگان
چکیده
منابع مشابه
Gray platelet syndrome.
The name GPS comes from the gray appearance of the platelets in the peripheral blood smear as a result of the absence of -granules. The genetic basis of GPS was recently demonstrated to be due to mutations in NBEAL2. The NBEAL2 gene encodes for the neurobeachin-like 2 (NBEAL2) protein, which is a member of the family of BEACH (BEige And Chediak-Higashi) domain-containing proteins on chromosome ...
متن کاملPseudo gray platelet syndrome: the first case report in Korea
Fig. 1. Pseudo gray platelets. (A) Blood collected in EDTA 4 hours prior showing aggregated agranular gray platelets (arrow). (B) Blood collected into EDTA showing large and pale agranular platelets. (C) Blood collected into sodium citrate showing normally stained platelets with tiny purple granules. Blood films were prepared immediately after venipuncture (×1,000, Wright-Giemsa stain). hospita...
متن کاملGFI1B mutation causes autosomal dominant gray platelet syndrome.
1. Kahr WH, Hinckley J, Li L et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011: 43 (8): 738–740. 2. Albers CA, Cvejic A, Favier R et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011: 43 (8): 735–737. 3. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T et al. NBEAL2 is mutated in gray platelet syndro...
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The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. Both gray platelets and megakaryocytes had abnormal marker expression. In addition...
متن کاملGray platelet syndrome: macrothrombocytopenia with deficient α-granules.
A 7-year-old boy of Pakistani origin was referred for thrombocytopenia and possible IgA deficiency. His medical history was significant for frequent upper respiratory tract infections and otitis media. There was no history of epistaxis, oropharyngeal bleeding, petechiae, bruising, or other bleeding problems. Physical examination was normal with no evidence of hepatosplenomegaly. Laboratory eval...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2011
ISSN: 0361-8609
DOI: 10.1002/ajh.22055