Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province.

Thalassemia is an autosomal genetic disorder, found throughout the world. It is still not treatable and create socio economic problems. In this study, we investigated the prevalence and spectrum features of thalassemia in Yunnan Province, the southwestern area of China.

A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.

Background: Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS.

Case Presentation: The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2-3 months.

MicroRNA-23b inhibits enterovirus 71 replication through downregulation of EV71 VPl protein.

Enterovirus 71 (EV71) is one of the causative pathogens of hand-foot-and-mouth disease and effective antiviral agents and vaccines against this virus have, to date, not been available. MicroRNAs (miRNAs) are a recently discovered class of RNAs with the function of post-transcriptional gene expression regulation. It has been demonstrated that miRNAs play important roles in the complicated interaction network between virus and host, while few studies have explored the role of miRNAs in EV71 infection.

[HLA haploidentical peripheral blood stem cells transplantation for β thalassemia major].

Objective: To evaluate the feasibility of HLA haploidentical peripheral blood hematopoietic stem cell transplantation (PBSCT) for patients with β thalassemia major.

Methods: Sixteen patients with β thalassemia major received HLA haploidentical PBSCT from parents. Two conditioning regimens were used.