Heterozygous Mutations in Both the and Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B Deficiency-A Case Report.

Vitamin B deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B deficiency in our patient, illustrates the usefulness of performing large panel clinical exome sequencing.

The association between unemployment and treatment among adults with hemophilia.

Background: People with hemophilia often experience pain and suffer from comorbidities related to their bleeding disorder. Consequently, unemployment due to disability is prevalent among people with hemophilia.

Objectives: To explore associations between unemployment due to disability and treatment while adjusting for known risk factors for unemployment.

Macroscopic hematuria as a risk factor for hypertension in ageing people with hemophilia and a family history of hypertension.

Ageing people with hemophilia (PWH) have a higher prevalence of hypertension than the general population. This study aimed to determine whether macroscopic hematuria was associated with hypertension in PWH in a post hoc analysis using data from a cross-sectional study conducted by the ADVANCE Working Group (the H3 study), which included PWH ≥ 40 years of age. Data from 16 contributing centers, located in 13 European countries and Israel, were analyzed using logistic regression models.

Hematuria in aging men with hemophilia: Association with factor prophylaxis.

Introduction: Macroscopic hematuria is considered a significant risk factor for urologic disease, and it is highly prevalent in people with hemophilia.

Aim: To determine whether prophylactic factor replacement therapy is associated with reduced occurrence of macroscopic hematuria in people with hemophilia in a post hoc analysis using data from a cross-sectional study conducted by the Age-Related Developments and Comobordities in Hemophilia (ADVANCE) Working Group that included males with hemophilia ≥40 years of age.

Methods: Data from 16 contributing centers, in 13 European countries and Israel, were analyzed using logistic regression.

The elevated prevalence of risk factors for chronic liver disease among ageing people with hemophilia and implications for treatment.

Chronic liver disease (CLD) is frequently seen in the hemophilia population. The ADVANCE Working Group conducted a cross-sectional study in which people with hemophilia (PWH) aged ≥40 years were included. This study aimed to assess the associations between CLD and its risk factors using data from the H3 study, and to suggest implications for optimal care.