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新生儿筛查显示印度中部镰状细胞贫血的发病率很高。

Newborn screening shows a high incidence of sickle cell anemia in Central India.

作者信息

Jain Dipty L, Sarathi Vijaya, Upadhye Dipty, Gulhane Rohini, Nadkarni Anita H, Ghosh Kanjaksha, Colah Roshan B

机构信息

Department of Paediatrics, Government Medical College, Nagpur-440009, India.

出版信息

Hemoglobin. 2012;36(4):316-22. doi: 10.3109/03630269.2012.691434. Epub 2012 Jun 19.

Abstract

There is limited data on the incidence of sickle cell anemia in Central India; we therefore conducted a study to estimate the incidence of this disease in Central India. Mothers who delivered a live baby at the Government Medical College, Nagpur, India were screened for the presence of the sickle cell hemoglobin {Hb S: [β6 (A3) Glu→Val, GAG>GTG]} using the solubility test within 48 hours of delivery. Infants of mothers who showed the presence of Hb S then underwent Hb analysis by high performance liquid chromatography (HPLC). A total of 8243 mothers was screened, 1178 of whom were positive. One thousand, one hundred and sixty-two infants of mothers with a positive solubility test underwent Hb analysis by HPLC; 530 infants were normal, while 536 were heterozygous for Hb S (sickle cell trait), 88 babies were homozygous for Hb S (sickle cell anemia), while another eight babies had other Hb abnormalities. The incidence of sickle cell anemia was highest in the Scheduled caste group (1:50). We concluded that the incidence of sickle cell anemia is high in central India.

摘要

印度中部镰状细胞贫血的发病率数据有限;因此,我们开展了一项研究来估算印度中部这种疾病的发病率。在印度那格浦尔政府医学院分娩活产婴儿的母亲们,在分娩后48小时内通过溶解度试验筛查是否存在镰状细胞血红蛋白{Hb S: [β6 (A3) Glu→Val, GAG>GTG]}。溶解度试验显示存在Hb S的母亲所生婴儿随后通过高效液相色谱法(HPLC)进行血红蛋白分析。总共筛查了8243名母亲,其中1178名呈阳性。溶解度试验呈阳性的母亲所生的1162名婴儿通过HPLC进行血红蛋白分析;530名婴儿正常,536名是Hb S杂合子(镰状细胞性状),88名婴儿是Hb S纯合子(镰状细胞贫血),另有8名婴儿有其他血红蛋白异常。镰状细胞贫血的发病率在在册种姓群体中最高(1:50)。我们得出结论,印度中部镰状细胞贫血的发病率很高。

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