Novel α-Globin Splice Site Mutation (HBA2: c.96-5C>A) in Combination with Three-Gene Deletion Hb H Disease.

The choice of acceptor splice site during exon-exon splicing by the spliceosome is determined by a variety of factors. We report here a family with a novel acceptor splice site variant within intron 1 of the α-globin gene that provides some in vivo insight into the rules governing RNA splicing in homo sapiens. A 2-year-old female with Hb H disease, was found to have not only three α-globin genes deleted (- -FIL/-α3.7) but also a HBA2: c.96-5C>A variant on her remaining α-globin gene. The HBA2: c.96-5C>A variant was in cis with -α3.7 and mRNA studies indicate that this variant creates a new acceptor splice site which is used in approximately 35.0% of α-globin mRNA transcripts. The reduced levels of normal mRNA transcript predicts a more severe Hb H disease than expected for the three-gene deletion Hb H disease with a phenotype similar to nondeletional Hb H disease. We propose that this variant be called Hb Beach Haven (HBA2: c.96-5C>A).

Scoping the Scene: What Do Nurses, Midwives, and Allied Health Professionals Need and Want to Know About Genomics?

Introduction: Rapid changes in genomic technology are transforming healthcare delivery. Although it has been well established that many health professionals lack the adequate knowledge, skills, and confidence to adapt to these changes, the specific educational needs of Australian allied health professionals, nurses, and midwives are not well understood. This diverse group of health professionals is primarily involved in the management of symptoms and psychosocial care of patients with genetic conditions, rather than risk assessment and diagnosis. The relevance of genetics and genomics to their clinical practice may therefore differ from medical practitioners and specialists. Materials and Methods: This paper reports on a study undertaken to identify the perceived genetic knowledge and education needs for this group of health professionals. Allied health professionals, nurses, and midwives were recruited from throughout New South Wales (NSW) and invited to participate in semi-structured telephone or face to face interviews. Results: A total of 24 geographically and professionally diverse individuals (14 allied health, 6 nurses, and 4 midwives) were interviewed. Interview recordings were transcribed and using thematic qualitative analysis recurring themes were identified. The results show that this is a diverse group that is keen to know more about genomics and genetic services but unsure of reliable sources. Discussion: The need for a generic update from a trustworthy source was identified and suggested topics to be covered included genetic fundamentals, recognizing common genetic conditions, and psychosocial/ethical aspects of genetics/testing including informed consent. In addition, the challenge of incorporating education into highly clinical roles was identified as a key barrier and having a readily accessible, accredited learning resource would help overcome this. Findings from this study are informing the development of a targeted, interactive e-learning resource for allied health professionals, nurses, and midwives.