...Jing Li; Haiyan Guo; Zaifu Zhu; Jingmin Sun Hereditary spherocytosis (HS) is a congenital disease in which erythrocyte membranes are abnormal, with ANK1 defects as the main cause. The diagnosis of neonatal HS is difficult due to poor phenotypic specificity. Therefore, a detailed inquiry into family...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Anemia Hereditary spherocytosis Ankyrin Next-generation sequencing Hereditary...

...Yeping Luo; Zhuoying Li; Lihua Huang; Jing Tian; Menglong Xiong; Zuocheng Yang Background/Aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 ( ANK1 ) mutations is the most common type. We explored an ANK1...

...Ben-Jin He; Lin Liao; Zeng-Fu Deng; Yi-Feng Tao; Yu-Chan Xu; Fa-Quan Lin With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1 , SPTB , ANK1 , SLC4A1 , and EPB42 . However, mutations...

...Yi-Feng Tao; Zeng-Fu Deng; Lin Liao; Yu-Ling Qiu; Xue-Lian Deng; Wen-Qiang Chen; Fa-Quan Lin Background: Osmotic fragility testing based on flow cytometry was recently introduced for the screening of hereditary spherocytosis (HS). This study was undertaken to evaluate the clinical diagnostic value...

...Giuseppe Masera; Giorgina Mieli; Massimo Petrone; Patrizia Porcelli In this study the case of a child affected with hereditary spherocytosis, who presented with a presumably viral infection induced transient aplastic crisis, is described. The bone marrow aspirate showed phagocytosis of erythrocytes...

...D.O. Ho-Yen A family with hereditary spherocytosis is described in which 3 sisters had haemolytic episodes during six pregnancies. None was treated with splenectomy and each pregnancy has resulted in the birth of mature live infants. Other members of the family were asymptomatic. When not pregnant...

...Chi-kong Li; Margaret Heung-ling Ng; Kam-lau Cheung; Tai-kwan Lam; Matthew Ming-kong Shing We report here a family of patients with coexistent hereditary spherocytosis and α-thalassaemia. The different clinical presentations of the family members were affected by the severity of the α-thalassaemia...

...Gudrun Stoya; Bernd Gruhn; Heinz Vogelsang; Eckehard Baumann; Werner Linss Flow cytometric analysis of eosin-5′-maleimide-labeled red blood cells has been proposed as a new method of identifying hereditary spherocytosis (HS). The aim of the present study was to analyze sensitivity and specificity...

...Jean Delaunay We will consider an array of genetic disorders of the red cell membrane. Some affect well-known genes. The mutations of most cases of hereditary spherocytosis (HS) are located in the following genes: ANK1 , SPTB , SLC4A1 , EPB42 and SPTA1 , which encode ankyrin, spectrin β-chain...

.... AE1 gene Band 3 deficiency Erythrocyte membrane Hereditary spherocytosis Missense mutation Hereditary spherocytosis (HS) is a common congenital hemolytic anemia characterized by spherical erythrocytes with increased osmotic fragility and reduced deformability. It is clinically...