Related Experiment Video
Updated: Feb 22, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children
Yuzhuopu Li1, Yang Wang1,2,3, Tao Liu1
1Department of Hematology and Oncology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China.
Background And Aim:
Hereditary spherocytosis (HS) is a common disease in hereditary hemolytic anemia. Advancements in sequencing technology have enabled the identification of a growing number of mutation sites associated with HS. This study analyzed the clinical characteristics and gene mutations of HS in our center.
Methods:
Retrospective collection of data on 59 Chinese pediatric patients with HS admitted to the Hematology Department of Chongqing Medical University Affiliated Children's Hospital from 2013 to 2022. Second-generation gene sequencing was performed on participants, with verification of detected variants using Sanger sequencing. Data analysis was conducted using various databases, and statistical methods were used for differential analysis.
Result:
We collected clinical data of 59 Chinese children with HS phenotype, including 27 males (45.8%) and 32 females (54.2%), all unrelated. The age of onset ranged from 0 to 180 months, with a median age of 60 months. Our study found that ANK1 and SPTB gene mutations were the primary causes of HS, with missense and frameshift mutations being the most common. De novo mutations were present in 37 (62.7%) patients, while the remaining mutations were inherited. We noted a higher proportion of females (p = 0.032) and lower total bilirubin levels (p = 0.014) in patients with multiple gene mutations. Patients with ANK1 gene mutations experienced more severe anemia compared to those with SPTB gene mutations (p = 0.041). Additionally, there were significant differences in mean corpuscular hemoglobin concentration (MCHC) between different mutation types (p = 0.036), indicating lower MCHC levels in the missense mutation group. No differences in clinical phenotypes were observed among different structural domains of ANK1 and SPTB mutations. Splenectomy significantly alleviated the symptoms in HS patients.
Conclusion:
We identified unique genetic and clinical characteristics mutations of HS in Chongqing, China. These findings expand the mutation spectrum of HS and have implications for early diagnosis and treatment of the disease.
More Related Videos
07:24A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
05:45Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Related Concept Videos
01:27Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
01:22iPS Cell Differentiation
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy