BÁO CÁO CA BỆNH: HỒNG CẦU NHỎ HÌNH CẦU DI TRUYỀN DO MẤT ĐOẠN LỚN 1,1MB VÙNG 14Q23.2–Q23.3 BAO GỒM GENE SPTB

Abstract

Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia. The disorder is usually attributable to point mutations or small variants in genes encoding red-cell membrane proteins. Only a few cases of HS resulting from large deletions encompassing the SPTB gene have been reported. We describe a 10-year-old boy with no relevant family history who presented with chronic hemolytic anemia, splenomegaly grade III, gallbladder sludge on ultrasound, and numerous spherocytes on peripheral blood smear. Targeted next-generation sequencing (NGS) of the coding regions (exons) of about 4,503 genes revealed a 1.1 Mb deletion at 14q23.2–q23.3 including SPTB - the causative gene for HS - as well as SYNE2, MTHFD1, and MAX. To our knowledge, this is the first case reported in Vietnam and the fourth worldwide of HS caused by a large deletion involving SPTB. Unlike previously published cases, the patient manifested isolated HS without neurodevelopmental abnormalities. This case highlights the importance of comprehensive genetic testing in the diagnostic work-up of unexplained hemolytic anemia.