Sona B Nair, Arundhati S Athalye, Madhavi Panphalia, Firuza R Parikh
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引用次数: 0
Abstract
Coinheritance of a high oxygen affinity structural hemoglobin (Hb) variant along with a thrombophilia marker is a rare occurrence. This may lead to a multi fold increase in the risk of thrombosis in patients. We report here a first case of Hb Coombe Park (HBA2: c.382A>G; p.Lys128Glu) from India, coinherited with a novel mutation (c.839C>G; p.Ser280Ter) on the SERPINC1 gene. This coinheritance has not been reported before. Though the patient is presently asymptomatic, identification of these variants will help in genetic counseling and to decide the future course of action in case of any clinical complications.
来自印度的α链变异[Hb Coombe Park (HBA2: c.382A>G)]与serinc1基因突变共遗传:双重打击?
高氧亲和性结构血红蛋白(Hb)变异与血栓形成标志物的共遗传是罕见的。这可能导致患者血栓形成风险增加数倍。我们在此报告首例Hb Coombe Park (HBA2: c.382A>G;p.Lys128Glu)来自印度，共遗传了一个新的突变(c.839C>G;p.Ser280Ter)在serinc1基因上。这种共遗传在以前没有报道过。虽然患者目前无症状，但这些变异的识别将有助于进行遗传咨询，并在出现任何临床并发症时决定未来的行动方案。
期刊介绍：
Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view
The journal covers topics such as:
structure, function, genetics and evolution of hemoglobins
biochemical and biophysical properties of hemoglobin molecules
characterization of hemoglobin disorders (variants and thalassemias),
consequences and treatment of hemoglobin disorders
epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening)
modulating factors
methodology used for diagnosis of hemoglobin disorders
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