hrp0098p2-328 | Late Breaking | ESPE2024

Clinical study of glucose metabolism after allogeneic hematopoietic stem cell transplantation for children with β-thalassemia major

Dai Huilian , Zhang Lina , Liang Liyang

Objective: To investigate the characteristics of glucose metabolism in children with β-thalassemia major (β-TM) after allogeneic hematopoietic stem cell transplantation (HSCT), and to identify the factors that influence abnormal glucose metabolism after HSCT for children with β-TM.Methods: A total of 41 children with β-TM who underwent HSCT at Hematopoietic Stem Cell Transplantation Department of Chil...

hrp0098p2-363 | Late Breaking | ESPE2024

Clinical and Genetic Features of Chinese Patients with Geleophysic and Acromicric Dysplasias due to FBN1 Mutations: A Case Series

Hou Lele , Liu Zulin , Zhang Lina , Ou Hui , Huang Siqi , Dai Huilian , Wang Dilong , Meng Zhe , Liang Liyang

Objective: This study aim ed to report four Chinese patients due to FBN1 mutations including one with geleophysic dysplasia (GD) and three with acromicric dysplasia (AD), and analyze the clinical and genetic features of all Chinese patients.Methods: The clinical features, laboratory tests and gene mutations of four Chinese patients with GD and AD were reported, and literatures were reviewed to analyze the clinic...