Jiang Ni, Mao Wu-Yong, Peng Bing-Xue, Yang Ting-Ya, Mao Xiao-Rong
Department of Infectious Diseases, The First Hospital of Lanzhou University, Lanzhou 730000, Gansu Province, China.
World J Clin Cases. 2023 Feb 26;11(6):1349-1355. doi: 10.12998/wjcc.v11.i6.1349.
The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis (HS), and to broaden the diagnostic thoughts of physicians for patients with jaundice.
A 28-year-old male presented with jaundice, bile duct stone, and splenomegaly, but without anemia. Other causes of jaundice were excluded, and gene sequencing revealed a novel heterozygous variant of c.1801C>T (p.Q601X) in exon 14 of the SPTB (NM_01355436) gene on chromosome 14 (chr14: 65260580) in the patient's blood; the biological parents and child of the patient did not have similar variants. A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery. Thus, a novel gene variant causing HS was identified. This variant may result in the truncation of β-hemoglobin in the erythrocyte membrane, leading to loss of normal function, jaundice, and hemolytic anemia. The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease, which caused challenges for diagnosis by the clinicians.
Following a definitive diagnosis, genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.
本研究旨在增进对非典型遗传性球形红细胞增多症（HS）诊断和治疗的理解，并拓宽医生对黄疸患者的诊断思路。
一名28岁男性出现黄疸、胆管结石和脾肿大，但无贫血。排除了其他黄疸病因，基因测序显示患者血液中14号染色体（chr14: 65260580）上SPTB（NM_01355436）基因第14外显子存在一种新的杂合变异c.1801C>T（p.Q601X）；患者的亲生父母和孩子没有类似变异。对该患者进行了脾切除术，术后其胆红素水平恢复正常。因此，鉴定出一种导致HS的新基因变异。这种变异可能导致红细胞膜上的β-血红蛋白截短，导致正常功能丧失、黄疸和溶血性贫血。该患者的临床表现为高胆红素血症，且病程中无典型溶血，给临床医生的诊断带来了挑战。
明确诊断后，通过基因检测和治疗反应确定了一种新型溶血性贫血的基因变异位点。
