点突变
葡萄糖-6-磷酸脱氢酶缺乏症
血红蛋白
溶血
血红蛋白病
脱氢酶
葡萄糖-6-磷酸脱氢酶
突变
基因
复合杂合度
遗传学
医学
溶血性贫血
生物
生物化学
酶
内科学
作者
Mansini Ap,Fernández Da,Aguirre Fm,Carolina Pepe,Berenice Milanesio,Alejandro Chaves,Eandi Eberle S,Feliú Torres A
出处
期刊:PubMed
日期:2015-01-01
卷期号:75 (6): 404-6
摘要
The co-inheritance of erythrocyte defects, hemoglobinopathies, enzymopathies, and membranopathies is not an unusual event. For the diagnosis, a laboratory strategy, including screening and confirmatory tests, additional to molecular characterization, was designed. As the result of this approach, a 24-year-old man carrying a hemoglobinopathy (Hemoglobin Woodville) and an enzymopathy (glucose-6-phosphate dehydrogenase deficiency) was identified. In the heterozygous state hemoglobin Woodville, is asymptomatic, and homozygous or double heterozygous individuals have not been reported thus far. On the other hand, previously described double point mutation in the gene for glucose-6-phosphate dehydrogenase c. [202G>A; 376A>G], p. [Val 68Met; Asn126Asp], causes hemolysis of varying severity after food or drug intake or infections. This case highlights the importance of the methodology carried out for the diagnosis, treatment, and proper genetic counseling.
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