Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta‐thalassemia
Yanhui Chen,
Qile Lin,
Wenpeng Ni
et al.
Abstract:BackgroundOverhydrated 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.MethodsWe 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.ResultsThe patient was ad… Show more
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