Upadhye Dipti, Das Rajat S, Ray Jayanta, Acharjee Shukdeb, Ghosh Kanjaksha, Colah Roshan B, Mukherjee Malay B
a Department of Haematogenetics , National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai , India.
b Department of Anatomy , Agartala Government Medical College , Agartala , India.
Hemoglobin. 2018 Jan;42(1):43-46. doi: 10.1080/03630269.2018.1428619. Epub 2018 Feb 8.
Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice. A total of 2400 cord blood samples were collected and analyzed by high performance liquid chromatography (HPLC). Further confirmation of any abnormal HPLC was done by DNA analysis. The samples were also screened for deficiency of enzymopathies, glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase. Of 2400 cord blood samples screened, 225 (9.3%) were Hb E (HBB: c.79G>A) heterozygotes, 80 (3.3%) were Hb E homozygotes and one carried Hb E-β-thalassemia (β-thal). Other Hb abnormalities were also detected including 15 Hb S (HBB: c.20A>T) heterozygotes, two Hb D-Punjab (HBB: c.364G>C) heterozygotes and two compound heterozygotes for Hb D-Punjab and Hb E. Of the 80 homozygous Hb E babies, four were non-tribal and 76 babies were tribal, and 225 patients carried Hb E trait, 141 were tribal, while 84 were non-tribal. Of 40 G6PD deficient babies identified, 13 had coinherited Hb E and two babies had pyruvate kinase deficiency. α Genotyping was performed in 162 affected babies, 50 of them carried α gene deletions. Newborn screening programs for Hb E, other hemoglobinopathies and G6PD deficiency must be encouraged in the malaria-endemic northeastern region of India. Drug-induced hemolysis can also be avoided by screening for G6PD deficiency at birth.
血红蛋白病是一组遗传性单基因疾病。在印度东北部特里普拉邦的部落和非部落人群中，有关于已鉴定出的血红蛋白（Hb）变异体的报道。本研究旨在通过对特里普拉邦新生儿进行筛查来确定血红蛋白病和酶病的范围，并评估新生儿黄疸的程度。共采集了2400份脐带血样本，并通过高效液相色谱法（HPLC）进行分析。对任何异常的HPLC结果进一步通过DNA分析进行确认。还对样本进行了酶病缺乏症筛查，即葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症和丙酮酸激酶缺乏症筛查。在筛查的2400份脐带血样本中，225份（9.3%）为Hb E（HBB：c.79G>A）杂合子，80份（3.3%）为Hb E纯合子，1份携带Hb E-β地中海贫血（β-地贫）。还检测到其他Hb异常，包括15份Hb S（HBB：c.20A>T）杂合子、2份Hb D-旁遮普（HBB：c.364G>C）杂合子以及2份Hb D-旁遮普和Hb E的复合杂合子。在80例Hb E纯合子婴儿中，4例为非部落婴儿，76例为部落婴儿；225例患者携带Hb E性状，其中141例为部落居民，84例为非部落居民。在鉴定出的40例G6PD缺乏症婴儿中，13例同时遗传了Hb E，2例婴儿存在丙酮酸激酶缺乏症。对162例受影响婴儿进行了α基因分型，其中50例携带α基因缺失。在印度东北部疟疾流行地区，必须鼓励开展针对Hb E、其他血红蛋白病和G6PD缺乏症的新生儿筛查项目。通过在出生时筛查G6PD缺乏症，还可避免药物性溶血。
