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.

The long-term efficacy of eltrombopag in children with immune thrombocytopenia.

Immune thrombocytopenia (ITP) is the most common autoimmune disorder characterized by decreased platelet counts and impaired platelet production. Eltrombopag has been demonstrated to be safe and effective for children with ITP. It is reported eltrombopag can achieve a sustained response off treatment.