• Soyoung Shin, Woori Jang, Myungshin Kim, Yonggoo Kim, Suk Young Park, Joonhong Park, and Young Jun Yang.
• Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
• Medicine (Baltimore). 2018 Jan 1; 97 (3): e9677e9677.

RationaleHereditary spherocytosis (HS) is an inherited disorder characterized by the presence of spherical-shaped red blood cells (RBCs) on the peripheral blood (PB) smear. To date, a number of mutations in 5 genes have been identified and the mutations in SPTB gene account for about 20% patients.Patient ConcernsA 65-year-old female had been diagnosed as hemolytic anemia 30 years ago, based on a history of persistent anemia and hyperbilirubinemia for several years. She received RBC transfusion several times and a cholecystectomy roughly 20 years ago before. Round, densely staining spherical-shaped erythrocytes (spherocytes) were frequently found on the PB smear. Numerous spherocytes were frequently found in the PB smears of symptomatic family members, her 3rd son and his 2 grandchildren.DiagnosisOne heterozygous mutation of SPTB was identified by targeted next-generation sequencing (NGS). The nonsense mutation, c.1956G>A (p.Trp652*), in exon 13 was confirmed by Sanger sequencing and thus the proband was diagnosed with HS.InterventionsThe proband underwent a splenectomy due to transfusion-refractory anemia and splenomegaly.OutcomesAfter the splenectomy, her hemoglobin level improved to normal range (14.1 g/dL) and her bilirubin levels decreased dramatically (total bilirubin 1.9 mg/dL; direct bilirubin 0.6 mg/dL).LessonsWe suggest that NGS of causative genes could be a useful diagnostic tool for the genetically heterogeneous RBC membrane disorders, especially in cases with a mild or atypical clinical manifestation.Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

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