National Institute of Immunohaematology, Parel, Mumbai, India.
Curr Opin Hematol. 2014 May;21(3):215-23. doi: 10.1097/MOH.0000000000000029.
Sickle cell disease (SCD) poses a considerable health burden in India. This review focuses on the recent initiatives to understand the variable phenotypes, the role of hydroxyurea in patients with the Asian haplotype and the feasibility of newborn screening, awareness and control programs.
A systematic long follow up of patients in central India has documented the clinical events and the causes of significant morbidity and mortality. Fixed low dose hydroxyurea was sufficient for a clinical and hematological response in severe patients who had high baseline fetal hemoglobin (HbF) levels. Follow-up of birth cohorts of SCD babies initiated recently has shown that in central India babies clinically present with early and severe anemia, requiring blood transfusions, and septicemia, which are the most common complications, whereas babies from tribal communities in south Gujarat have no severe complications. Greater awareness has led to increasing requests for prenatal diagnosis.
SCD in India is not uniformly mild despite high fetal hemoglobin levels. The benefits of comprehensive care and hydroxyurea therapy have been demonstrated. Newborn screening is acceptable and is beginning to throw light on the natural history of the disease. The central and state governments are now supporting the establishment of centers for the diagnosis of patients and comprehensive care.
镰状细胞病（SCD）在印度造成了相当大的健康负担。本综述重点介绍了近期旨在了解不同表型、羟脲在亚洲单倍型患者中的作用以及新生儿筛查、意识和控制项目可行性的相关举措。
对印度中部患者的系统长期随访记录了临床事件以及导致高发病率和死亡率的原因。固定低剂量羟脲足以使基线胎儿血红蛋白（HbF）水平较高的重症患者获得临床和血液学反应。最近启动的 SCD 婴儿出生队列的随访表明，在印度中部，婴儿临床表现为早期和严重贫血，需要输血和败血症，这是最常见的并发症，而古吉拉特邦南部部落社区的婴儿则没有严重并发症。意识的提高导致越来越多的人要求进行产前诊断。
尽管印度的 SCD 患者 HbF 水平较高，但并非均表现为轻度。全面护理和羟脲治疗的益处已得到证实。新生儿筛查是可以接受的，并且开始揭示疾病的自然史。中央和邦政府现在正在支持建立用于患者诊断和全面护理的中心。
