Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to <i>SLC4A1</i> variants

Marcello, Anna Paola; Visconti, Camilla; Vercellati, Cristina; Zaninoni, Anna; Bianchi, Paola; Barcellini, Wilma; Aiuti, Alessandro; Fermo, Elisa; Ferrua, Francesca

doi:10.1002/pbc.30344

Cited by 1 publication

(2 citation statements)

References 17 publications

(18 reference statements)

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“…2 OHSt is an autosomal dominant condition caused by heterozygous mutations in genes encoding membrane transporters such as RHAG, SLC4A1, and SLC2A1. [3][4][5] In OHSt, there is an increased permeability of the erythrocyte membrane to monovalent cations, leading to elevated intracellular Na + concentration, reduced K + concentration, and subsequent water influx into the cells. 6 These cellular changes ultimately result in increased osmotic fragility of erythrocytes and their premature destruction within the spleen.…”

Section: Introductionmentioning

confidence: 99%

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Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta‐thalassemia

Chen,

Lin,

et al. 2023

Clinical Laboratory Analysis

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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 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.

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Section: Introductionmentioning

confidence: 99%

“… 2 OHSt is an autosomal dominant condition caused by heterozygous mutations in genes encoding membrane transporters such as RHAG , SLC4A1 , and SLC2A1 . 3 , 4 , 5 …”

Section: Introductionmentioning

confidence: 99%

Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta‐thalassemia

Chen,

Lin,

et al. 2023

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants

Cited by 1 publication

References 17 publications

Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta‐thalassemia

Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta‐thalassemia

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