Clinical Analysis and Mental Health Survey of Hemophilia Carriers: a Cross-sectional Study.

Objective: Hemophilia carriers (HCs), who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene (F8 or F9), may have a wide range of clotting factor levels, from very low, similar to afflicted males, to the upper limit of normal, and may experience mental health issues. The purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of HCs. Additionally, we aimed to investigate the mental health status of HCs in China.

Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With -Related Disorder.

Cardinal features of -related disorders are characterized by intellectual disability, developmental delay, dysmorphic facial features, structural heart defect and structural brain abnormality. A 9-year-old boy presented with intellectual disability, development delay, characteristic craniofacial features, brain malformation, cryptorchidism, autism spectrum disorder, and recently, recurrent hemophagocytic lymphohistiocytosis (HLH) in a half year period. Further investigation revealed the diagnosis of -related disorder.

[Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene].

Objective: To report on a case with severe hemophilia A (HA) due to a large duplication of F8 gene.

Methods: Inversion detection, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutation in the proband and his mother.

Results: The patient, a 7-year-old boy, was diagnosed with severe HA at 8 months.

Capillary blood reference intervals for platelet parameters in healthy full-term neonates in China.

Background: No consensus has been reached on capillary blood reference intervals for platelet parameters in full-term neonates. We aimed to establish neonatal capillary blood reference intervals for platelet parameters and evaluate influences of sex, gestational age and postnatal age on platelet parameters.

Methods: This study was a prospective investigation and implemented in 594 healthy full-term neonates from 12 to 84 h of age, using SYSMEX XN-9000 haematology automatic analyser by means of capillary blood.