Methods: This was a cross-sectional study conducted in the Kelantan state of Malaysia. The questionnaire comprised 39 questions that covered areas such as donors' social demographic information, knowledge of transfusion-transmitted diseases, blood screening and donor eligibility and perceptions towards blood safety. The knowledge score was categorised as good or poor.
Results: Of the 450 distributed questionnaires, 389 were suitable for analysis. Only 18.5% of the donors had good knowledge, with 81.5% having poor knowledge. Less than 30% were aware that people with multiple sexual partners, bisexual people and male homosexual people are permanently deferred from blood donation. Only 29.4% agreed that donors are responsible if their blood causes infection. Furthermore, 39.3% assumed that they could check their HIV status through blood donation, and 10.3% and 5.4% of the respondents believed that donors are free from infection if they wear a condom during sex or only have oral sex when involved in prostitution, respectively.
Conclusion: Poor knowledge and notable misperceptions concerning safe blood donation were found among blood donors. The Ministry of Health should incorporate safe blood education in future public awareness programmes.
DESIGN: We used genome sequencing data to assess the prevalence of mutations in syndromic HH genes in an international cohort of patients with HH of unknown genetic cause.
PATIENTS: We undertook genome sequencing in 82 infants with HH without a clinical diagnosis of a known syndrome at referral for genetic testing.
MEASUREMENTS: Within this cohort, we searched for the genetic aetiologies causing 20 different syndromes where HH had been reported as a feature.
RESULTS: We identified a pathogenic KMT2D variant in a patient with HH diagnosed at birth, confirming a genetic diagnosis of Kabuki syndrome. Clinical data received following the identification of the mutation highlighted additional features consistent with the genetic diagnosis. Pathogenic variants were not identified in the remainder of the cohort.
CONCLUSIONS: Pathogenic variants in the syndromic HH genes are rare; thus, routine testing of these genes by molecular genetics laboratories is unlikely to be justified in patients without syndromic phenotypes.