Citeline：2025镰刀型细胞贫血病诊疗进展与公平挑战白皮书（英文版）（19页）.pdf

1、Sickle Cell Disease:A Cure Within Reach,Justice Still DistantJune 2025White PaperBy Abdirazak Mohamed and Athanasia Agapiou2June 2025 Copyright 2025 Pharma Intelligence UK Limited,a Citeline company(Unauthorized photocopying prohibited.)Sickle Cell Disease:A Cure Within Reach,Justice Still DistantSi

2、ckle cell disease(SCD)is a monogenic inherited blood disorder,characterized by abnormal hemoglobin in red blood cells.Oxygen is carried throughout the body via hemoglobin and a missense mutation in the-globin gene results in a defective sickle-like form.This causes the formation of insoluble hemoglo

3、bin polymers and impairing of red blood cell membrane and ultimately leads to sickled erythrocytes.These crescent-shaped red blood cells impede blood flow as they are prone to clustering,restricting oxygen delivery to tissues and leading to extreme pain and even organ damage,known as vaso-occlusive

4、events or crises.This is just the hallmark of the disease;additional symptoms include increased susceptibility to infections,anemia,and in severe cases,premature death.1The condition is prevalent,with 8 million people affected worldwide and 107,182 of those individuals currently living in the US,2 m

5、ost of whom are of African descent.This prevalence is believed to be because of the evolutionary advantage it offered against malaria.The sickle cell trait,which is the possession of one copy of the sickle cell gene,provided some protection against severe malaria in areas such as Africa,where the di

6、sease is common.Many of African descent came to the US carrying the sickle cell gene with them.SCD can be crippling,and healthcare demands have been historically undelivered.3The therapeutic landscape for SCD has evolved significantly between 1995 and 2025,marked by long periods of stagnation follow