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Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy.

作者信息

Liu Peng-Peng, Ding Hu-Qing, Huang Shen-Zhen, Yang Sheng-Yong, Liu Ting

机构信息

Department of Hematology, Hematologic Research Laboratory, West China Hospital of Sichuan University. Chengdu, Sichuan 610041, China.

Sichuan Hua Xi Kindstar Medical Diagnostic Centre, Chengdu, Sichuan 610000, China.

出版信息

Chin Med J (Engl). 2019 Jan 5;132(1):92-95. doi: 10.1097/CM9.0000000000000027.

DOI:10.1097/CM9.0000000000000027
PMID:30628965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6629312/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/242b/6629312/1f30f1583305/cm9-132-092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/242b/6629312/1f30f1583305/cm9-132-092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/242b/6629312/1f30f1583305/cm9-132-092-g001.jpg

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Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy.一名中国男孩因新型复合杂合PKLR基因突变导致的严重先天性溶血性贫血。
Chin Med J (Engl). 2019 Jan 5;132(1):92-95. doi: 10.1097/CM9.0000000000000027.
2
[Congenital hemolytic anemia caused by pyruvate kinase variants (PK 'Kasumi')].
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本文引用的文献

1
Primary red cell hydration disorders: Pathogenesis and diagnosis.原发性红细胞水合紊乱：发病机制与诊断。
Int J Lab Hematol. 2018 May;40 Suppl 1:68-73. doi: 10.1111/ijlh.12820.
2
A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.一个导致中国儿童丙酮酸激酶缺乏症的新型和一个先前描述的复合杂合PKLR基因突变。
Fetal Pediatr Pathol. 2014 Jun;33(3):182-90. doi: 10.3109/15513815.2014.890260. Epub 2014 Mar 6.
3
A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice.
Eur J Pediatr. 2001 Aug;160(8):523-4. doi: 10.1007/pl00008456.
4
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.遗传性椭圆形红细胞增多症和遗传性球形红细胞增多症中的血影蛋白突变
Hum Mutat. 1996;8(2):97-107. doi: 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M.
5
Homozygous pyruvate kinase deficiency in Hong Kong ethnic minorities.
J Paediatr Child Health. 1992 Aug;28(4):334-6. doi: 10.1111/j.1440-1754.1992.tb02682.x.