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。
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.