A splice mutation in gene in the patient with recurrent epistaxis and nasal vascular malformation.

Platelet type bleeding disorder-18 (BDPLT18) caused by mutations of Ras guanyl releasing protein 2 () is a relatively rare, new autosomal recessive disorder. Here, we reported a splice mutation in gene in the patient with recurrent epistaxis and nasal vascular malformation. The patient, an 8-year-old girl, suffered from anemia due to frequently severe recurrent epistaxis, requiring regular blood transfusions every 2-3 months.

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.