Genetic Analysis And Literature Review Of 6 Cases Of Hereditary Spherocytosis

Objective:To identify the genetic defects and genetic characteristics of 6 familes with hereditary spherocytosis(HS).Methods:The probands were diagnosed with HS by the clinical characteristics and the lab tests.Whole exome sequencing and Sanger sequencing were sued to find and verify the gene defects of the six cases of hereditary spherocytosis.Results:All of the 6 probands had anemia,jaundice and splenomegaly.Spherical red blood cells of the proband are easy to see.We identified six mutations by sequencing the whole exome sequencing of six patients with hereditary spherocytosis.HS01 found the ANK1 gene c.2559-2A>G mutation,and none of her children found this gene mutation;HS02 found a mutation in the ANK1 gene c.28-2A>G.One of the patient's sons had this gene mutation;HS03 found the c.3157C>T mutation of the ANK1 gene,but neither the parents nor their younger brothers found this mutation;HS04 discovered the SPTB gene c.5038 delG mutation,but neither the parents nor their younger brothers found this mutation;HS04 discovered the SPTB gene c.1816C>T mutation,but none of its parents found this mutation;HS04 discovered the mutation of SPTB gene c.1795+1G>A,and the patient's father discovered this mutation.There is no significant difference in anemia in HS patients regardless of whether the mutation occurs in any binding domain of ANK1 gene and SPTB gene.Conclusion:The ANK1 Gene c.2559-2A>G ? c.28-2A>G ? c.3157C>T mutation and SPTB Gene c.5038delG?c.1816C>T?c.1795+1G>A mutation are the genetic pathogenesis of Hereditary Spherocytosis,the genetic defects of the probands such as HS03,HS04 and HS05 were caused by spontaneous mutation.We summarized the mutation characteristics of HS patients,the ANK1 gene mutation is the most common,followed by the SPTB gene mutation.