Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: First South Asian study

“…The cases with variants located on the spectrin-binding domain showed lower Hb levels of (74 AE 22 g/l) compared to variants at the membrane binding domain (104 AE 19 g/l) or regulatory domain (106 AE 15 g/l). Such phenotypic variations have been noted by Park et al (2016). Similar to other studies, we also found prominent spherocytosis and a few mushroom cells with ANK1 variants; clinically, these patients presented with a moderate to moderately severe phenotype (Tse & Lux, 1999;Das et al, 2002).…”

Clinical manifestations and phenotypic analysis of new ANK1 gene mutations in 12 Chinese children with hereditary spherocytosis

“…In the erythrocyte membrane structure, ankyrin binds to the self-joining point of the β-chain tail of the contractile protein at one end, and the other end is linked to the band 3 protein, which fixes the membrane skeleton in the lipid bilayer and plays an important role in stabilizing the erythrocyte membrane (28).Ankyrin typically consists of three domains: an N-terminal domain containing multiple ankyrin repeats, the central region containing a spectrin binding domain and a C-terminal regulatory domain. Studies have shown that patients with ANK1 mutations in the spectrin binding domain have the most severe anemia compared to mutations in other domains (7).Among the 12 children with ANK1 mutation reported in this article, 5 patients had a mutated region in the central region, and 4 of them had moderate to severe anemia. This indicates the severity of anemia after mutation in this region.…”

“…Among them, the most common type of mutation is ANK1 mutation, which accounts for about 50% of all HS gene mutation types (19)(20)(21), followed by SLC4Al and SPTB locus mutations (22,23).There are few related studies on HS gene in China, Most studies are case reports and lack of large sample studies (24)(25)(26). It is also rare research and large-scale studies on children's ANK1 gene in other countries (7).The 12 ANK1 mutation found in this study are all mutations unreported. All gene mutation sites have not been included in the thousands of human genome database, dbSNP (v138) and ExAC databases, and have not been reported in the literature.…”

“…It is currently believed that HS-related mutant genes mainly include ANK1, SPTB, SPTA1, EPB42 and SLC4A1, and among these all related genes, ANK1 gene mutation is the most common (7). In terms of heredity, HS is mainly autosomal dominant, but there are also some reports of participatory recessive inheritance (8).…”

Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis

“…Hereditary spherocytosis (HS) is an inherited disorder characterized by sphere-shaped erythrocytes on peripheral blood smear with a few clinical manifestations including anemia, jaundice, reticulocytosis, gallstones and splenomegaly [1]. HS is predominantly caused by defects in erythrocyte membrane proteins, particularly including ankyrin 1, Band 3, α-spectrin, β-spectrin, and protein 4.2 [2], encoded by ankyrin 1 (ANK1) gene, solute carrier family 4, member 1 (SLC4A1) gene, spectrin, alpha, erythrocytic 1 (SPTA1) gene, spectrin, beta, erythrocytic (SPTB) gene and erythrocyte membrane protein band 4.2 (EPB42) gene, respectively [3]. These genes, if mutated, can lead to the deformation of red cells so that doubleconcave disc-shaped red blood cells become spherical, fragile red blood cells [4,5].…”