• Bing Chen, Wanzhong Kong, Jinlin Liu, and Junwu Zhang.
• Department of Clinical Laboratory, Wenchang People's Hospital, Wenchang, Hainan, China.
• Medicine (Baltimore). 2024 Oct 4; 103 (40): e39975e39975.

RationaleGray platelet syndrome (GPS) is a rare disease caused by homozygosity and compound heterozygosity for autosomal mutations on the NBEAL2 gene, which is characterized by a deficiency of platelet α-granules, bleeding symptoms. However, in this study, we report 2 NBEAL2 gene mutations in an easy bruising family without gray platelet and bleeding.Patient ConcernsA 33-year-old female nurse sought admission to our laboratory due to a tendency to bruise easily and unwell in daily life. However, there are no signs of petechiae or excessive bleeding in her daily life. Coagulation tests, routine blood tests and platelet staining of blood smears were all normal.InterventionsThe whole exome sequencing and Sanger sequencing were used to identify the causative variant of the patient. Furthermore, the morphology of platelets was examined using electron microscopy.Diagnosis And OutcomesWhole exome sequencing revealed the presence of 2 mutations in the NBEAL2 gene: p.Thr365fs and p.Ala310Thr. This prompted the consideration of a GPS diagnosis. However, platelet electron microscopy did not identify any abnormalities, leading to the exclusion of GPS.LessonsThese 2 NBEAL2 gene mutations (p.Thr365fs and p.Ala310Thr mutations) do not affect the degranulation of platelets.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

10 keywords...

hide…