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A Case of Chronic Thrombocytopenia in a 17-Year-Old Female.

Abstract：

:Storage pool deficiency (SPD) is a group of rare platelet disorders that result from deficiencies in α-granules, δ-granules, or both. One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the neurobeachin-like 2 (NBEAL2) gene that results in a bleeding diathesis, thrombocytopenia, splenomegaly, and progressive myelofibrosis. Due to the lack of α-granules, platelets have a gray and degranulated appearance by light microscopy. However, definitive diagnosis of GPS requires confirmation of α-granule deficiency by electron microscopy. Treatment is nonspecific, with the conservative utilization of platelet transfusions being the most important form of therapy. We present a case of a 17-year-old female with a past medical history of thrombocytopenia, first identified at the age of five. Her clinical symptomatology included chronic fatigue, gingival bleeding, bruising, menorrhagia, and leg pain. This report will discuss both the clinical and the pathophysiologic aspects of this rare platelet disorder.

journal_name

Lab Med

journal_title

Laboratory medicine

authors

Riley R,Khan A,Pai S,Warmke L,Winkler M,Gunning W

doi

10.1093/labmed/lmz013

subject

Has Abstract

pub_date

2019-10-10 00:00:00

pages

406-420

issue

4

eissn

0007-5027

issn

1943-7730

pii

5522098

journal_volume

50

pub_type

杂志文章

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