A previously unrecognized Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family

Abstract

Hereditary spherocytosis is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on peripheral blood smear.The clinical manifestations of HS are highly variable, from severe forms to asymptomatic forms. HS is caused by defects in red blood cell membrane proteins, encoded by the ANK1, EPB42, SLC4A1, SPTA1 and SPTB genes. Mutation of the ANK 1 gene is the most common and inheritance is autosomal dominant in 75% of cases. In our case, heterozygous an ANK1 c.4123C > T mutation was identified in a 4-year-old girl, using targeted next-generation sequencing and Sanger sequencing. K E Y W O R D Smolecular cytogenetics, pediatric hematology, red cell disorders

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

“…Shen et al, 2019), ID3 (Eber et al, 1996), ID4 (Lazzareschi et al, 2019), ID7 (Wang et al, 2017), ID12 (Wang et al, 2017), and ID14 (Aggarwal et al, 2020) have been reported in the past. The ANK1 C.4276C > T (p.r1426 * ) variant was found in both patients 7 and 12.…”

Human erythrocytes: cytoskeleton and its origin

“…Moreover, instability of the cell membrane is observed in some blood disorders, such as hereditary spherocytosis, hereditary stomatocytosis, and hereditary elliptocytosis, where protein defects in the vertical and horizontal interactions were demonstrated [67,74]. All these pathologies have in common the fact that they present alterations in some cytoskeleton component, and consequently alterations in the morphology and mechanical properties of erythrocytes were observed, for example, in hereditary spherocytosis, quantitative or qualitative defects were observed in ankyrin, protein 4.2, band 3 protein, α-spectrin, and β-spectrin, which are encoded by the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes, respectively [75]. On the other hand, in hereditary elliptocytosis, heterozygous mutations of genes that encode the α-spectrin (encoded by SPTA1), β-spectrin (encoded by SPTB), or protein 4.1 were reported [76].…”