PDF(Pubmed)
Abstract：
BACKGROUND: Overhydrated hereditary stomatocytosis (OHSt) is a rare disorder characterized by abnormalities in erythrocytic volume homeostasis. Early and accurate diagnosis is essential for appropriate management and genetic counseling.
METHODS: We present the case of a child with beta-thalassemia and a history of multiple blood transfusions. Clinical presentation, laboratory findings, and genetic testing were reviewed. Peripheral blood smear examination and genetic analysis were performed.
RESULTS: The patient was admitted with severe anemia, and peripheral blood smear examination revealed the presence of up to 50% stomatocytes. Laboratory investigations showed abnormalities in red blood cell parameters, including decreased hemoglobin levels and increased mean corpuscular volume. Genetic testing identified a heterozygous mutation in the RHAG gene, confirming the diagnosis of OHSt. The presence of stomatocytes in the peripheral blood smear was transient, correlating with episodes of hemolysis and its control.
METHODS: We present the case of a child with beta-thalassemia and a history of multiple blood transfusions. Clinical presentation, laboratory findings, and genetic testing were reviewed. Peripheral blood smear examination and genetic analysis were performed.
RESULTS: The patient was admitted with severe anemia, and peripheral blood smear examination revealed the presence of up to 50% stomatocytes. Laboratory investigations showed abnormalities in red blood cell parameters, including decreased hemoglobin levels and increased mean corpuscular volume. Genetic testing identified a heterozygous mutation in the RHAG gene, confirming the diagnosis of OHSt. The presence of stomatocytes in the peripheral blood smear was transient, correlating with episodes of hemolysis and its control.
摘要：
背景：过度水合遗传性口腔细胞增多症（OHSt）是一种罕见的以红细胞体积稳态异常为特征的疾病。早期和准确的诊断对于适当的管理和遗传咨询至关重要。
方法：我们介绍一例患有β-地中海贫血并有多次输血史的儿童。临床表现,实验室发现,和基因检测进行了回顾。进行外周血涂片检查和遗传分析。
结果：患者因严重贫血入院，外周血涂片检查显示存在高达50％的气孔细胞。实验室调查显示红细胞参数异常，包括血红蛋白水平降低和平均红细胞体积增加。基因检测发现RHAG基因有杂合突变,证实OHSt的诊断。外周血涂片中存在气孔细胞是短暂的，与溶血发作及其控制有关。
方法：我们介绍一例患有β-地中海贫血并有多次输血史的儿童。临床表现,实验室发现,和基因检测进行了回顾。进行外周血涂片检查和遗传分析。
结果：患者因严重贫血入院，外周血涂片检查显示存在高达50％的气孔细胞。实验室调查显示红细胞参数异常，包括血红蛋白水平降低和平均红细胞体积增加。基因检测发现RHAG基因有杂合突变,证实OHSt的诊断。外周血涂片中存在气孔细胞是短暂的，与溶血发作及其控制有关。
