A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review

• मुख्य लेखकों: Jie Li (लेखक), Xiaozi Wang (लेखक), Na Zheng (लेखक), Xiaoning Wang (लेखक), Yan Liu (लेखक), Liying Xue (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS...