Italia Yazdi, Krishnamurti Lakshmanan, Mehta Vishal, Raicha Bhavesh, Italia Khushnooma, Mehta Pallavi, Ghosh Kanjaksha, Colah Roshan
Valsad Raktdan Kendra, Valsad 396001, India.
Children's Hospital of Pittsburgh of UPMC, 4401 Penn Ave, Pittsburgh, PA 15224, United States.
J Med Screen. 2015 Mar;22(1):1-7. doi: 10.1177/0969141314557372. Epub 2014 Oct 23.
To evaluate the feasibility of a newborn screening and follow-up programme for sickle cell disease (SCD) among tribal populations of south Gujarat, India.
A total of 5467 newborn babies were screened over 2 years using High-performance liquid chromatography, with diagnosis by molecular analysis. The SCD babies were followed-up clinically and haematologically regularly for 1.5 to 5 years to describe the course of the disease.
Thirty-three babies (0.60%) were sickle homozygous, 13 (0.23%) were-sickle-β-thalassaemia, 687 (12.5%) were sickle heterozygous, and 4736 were unaffected. The parents of SCD babies were educated and counselled for home care. There were 32 babies (69.5%) who could be clinically and haematologically followed-up; 7 babies (21.8%) presented with severe clinical complications, whereas 18 (56.2%) babies were asymptomatic till the last follow-up. The variation in clinical presentation was seen in spite of the presence of ameliorating factors, such as high fetal haemoglobin, Xmn-I polymorphism, and α-thalassaemia.
In addition to demonstrating the possibility of establishing a newborn screening programme for sickle cell disorders among tribal populations, this study has shown that the disease is not always mild among tribal groups in India, as previously believed. There is a need, therefore, for increasing awareness among these tribal groups about the disease, and for regular monitoring of affected babies to reduce morbidity and mortality and to understand the natural course of the disease.
评估在印度古吉拉特邦南部部落人群中开展镰状细胞病（SCD）新生儿筛查及随访项目的可行性。
在两年时间里，共对5467名新生儿使用高效液相色谱法进行筛查，并通过分子分析进行诊断。对确诊为SCD的婴儿进行了1.5至5年的临床和血液学定期随访，以描述疾病进程。
33名婴儿（0.60%）为镰状细胞纯合子，13名（0.23%）为镰状-β-地中海贫血，687名（12.5%）为镰状细胞杂合子，4736名未受影响。对SCD婴儿的父母进行了关于家庭护理的教育和咨询。有32名婴儿（69.5%）能够进行临床和血液学随访；7名婴儿（21.8%）出现了严重的临床并发症，而18名（56.2%）婴儿在最后一次随访时无症状。尽管存在一些改善因素，如高胎儿血红蛋白、Xmn-I多态性和α-地中海贫血，但仍观察到临床表现的差异。
除了证明在部落人群中建立镰状细胞病新生儿筛查项目的可能性外，本研究还表明，该病在印度部落群体中并不总是如之前所认为的那样轻微。因此，有必要提高这些部落群体对该病的认识，并对受影响的婴儿进行定期监测，以降低发病率和死亡率，并了解疾病的自然病程。
