Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.

Chongjun WuYixin YanTing XiongWen JiangJing XuYanfei RaoJianyun AoChun XuXuehong LiLongwang QiWenhong ZhengWenjin LiZhongjin XuYu YangZhenjiang Li

Published in: Orphanet journal of rare diseases (2024)

This study conducted a comparative analysis of phenotypic characteristics and molecular genetics in adult and pediatric patients diagnosed with HS, confirming that pediatric ANK1-HS patients exhibit a more severe anemic phenotype compared to SPTB-HS patients, while the severity of HS in adults does not significantly differ between different causative genes.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
genome wide
patient reported outcomes
early onset
copy number
childhood cancer