Definition and Characteristics
Uniconcave erythrocytes giving the appearance of a “stoma” in the center of the cell on the peripheral blood smear, either congenital or acquired, mostly with decreased surface to volume ratio due to increased cell volume (overhydration), producing varying degrees of hemolysis as well as vasoocclusive manifestations. Some variant stomatocytic disorders are characterized by cell dehydration [1,2].
Prevalence
Acquired forms are rare with data limited to case reports.
Genes
Hereditary stomatocytosis (HS) with overhydration refers to an autosomal dominant hemolytic anemia associated with absence of band 7.2 which has been, a protein of unknown function on the cytoplasmatic red cell membrane [1]. Band 7.2 absence alone does not account for stonratocytosis with overhydration and its molecular basis is not elucidated [1–3]. Variants (such as hereditary xerocytosis [HX] and pseudohyperkalemia) associated with cell dehydration are linked to 16q23–q24 [3].
Molecular...
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References
An X, Mohandas N (2008). Disorders of the red cell membrane. Br J Haematol 141:367–375
Smith BD, Segel GB (1997). Abnormal erythrocyte endothelial adherence in hereditary stomatocytosis. Blood 89:3451–3456
Delaunay J (2002). Molecular basis of red cell membrane disorders. Acta Haematol 108:210–218
Stewart GW, Amess JA, Eber SW, Kingswood C, Lane PA, Smith BD, Mentzer WC (1996) Thrombo–embolic disease after splenectomy for hereditary stomatocytosis. Br J Haemotol 93:303–310
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Schnog, JJ.B., Gerdes, V.E.A. (2009). Stomatocytic Disorders and Variants. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1677
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1677
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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