Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome
Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome
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DOI：
10.1006/bcmd.2002.0491
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发表时间：
2002-03-01
影响因子：
2.3
通讯作者：
Miller, W
中科院分区：
文献类型：
--
作者：
Beutler, E;Gelbart, T;Miller, W
一名患有慢性溶血性贫血和 G6PD 缺乏症的患者患有严重黄疸，并且血清铁蛋白水平较高。对他的 DNA 分析仅显示 HFE 的 c.187 C-->G (H63D) 突变为杂合性，但显示他的吉尔伯特病 UDP 葡萄糖醛酸基转移酶启动子突变是纯合性的，并且他具有先前未描述的 G6PD 突变，即 c.832 T-->C (Ser278Pro)。新变体被命名为G6PD La Jolla。 (C) 2002 年爱思唯尔科学（美国）。
A patient with chronic hemolytic anemia and G6PD deficiency was noted to be severely jaundiced and to have a high serum ferritin level. Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla. (C) 2002 Elsevier Science (USA).