Samin Alavi, Soha Mohammadimoghaddam, Hossein Najmabadi, Sina Maghsoudlou
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引用次数: 0
摘要
在本报告中，我们描述了一名 6 岁女孩的病史，她面色苍白、轻度黄疸、贫血、输血以及毛细管电泳血红蛋白变异分析异常。她被转诊接受进一步分析。对该患者的 DNA 测序发现，β-球蛋白基因（HBB：c.266T > C）第 88 号密码子（CTG > CCG）发生了新的突变，其杂合状态与血红蛋白 Santa Ana（一种不稳定的血红蛋白）相符。这是伊朗首例伴有中度至重度贫血的圣安娜血红蛋白病例，患者接受脾脏切除术后临床症状有所改善。
The First Iranian Case of Unstable Hemoglobin Santa Ana.
In this report, we describe a 6-year-old girl with a medical history of pallor, mild icterus, anemia, blood transfusion and abnormal hemoglobin variant analysis on capillary electrophoresis. She was referred for further analysis. DNA sequencing of the proband revealed a de novo mutation in Codon 88 (CTG > CCG) of the β-globin gene (HBB: c.266T > C) in a heterozygous state compatible with hemoglobin Santa Ana, an unstable hemoglobin. This is the first case of Hb Santa Ana from Iran associated with moderate to severe anemia who underwent splenectomy with clinical improvement.
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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