Gene Mutation Analysis In A Kindred With Hereditary Spherocytosis

Background and PurposeHereditary spherocytosis (HS) is a clear indicator of congenital hemolytic anemia with red cell membrane deficiency. This disorder is characterized by the presence of microspherocytosis on a smear from peripheral blood. People with HS may have anaemia, jaundice, and splenomegaly. Splenic sequestration is the main determinant of erythrocyte survival in patients with hereditary spherocytosis.Thus, Confirmation of the diagnosis is important to the treatment and prevention of complications, genetic defects defmiton have its profound social importance to guiding eugenic birth. In our research work, we studied the molecular genetic mechanism of HS in a kindred on the pathogenesis, including protein deficiency and the types of the mutations of this kindred.MethodsThe case histories of the proband and other members were collected. Their genomic DNA and red blood cell membrane were extracted from peripheral blood, and then we used western blot to analay the red blood cell membrane deficiency, the defective protein and gene had been found. All the exons of defective gene were amplified by polymerase chain reaction. PCR fragments were bidirectional sequenced in order to find the mutation.ResultThe results of western blot showed that:the proband and his elder son had band 3 deficiecy, thus, the defective gene was located on SLC4A1 gene. Sequences of all the exons of SLC4A1 gene of two HS patients, we didn't find any mutants like c.1582C>T,c.2623A>G\c.2624C>T,c.2623C>G.Conclusion1. A chinese HS kindred with dominant inheritance was determined, two patiens had band 3 deficiencies.2. All the exons of SLC4A1 gene were sequenced, mutants like c.1582C>T,c.2623A>G,c.2624C>T,c.2623C>G were not found in this kindred we studied.