Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/ß0-Thalassemia.

We report a case of Hb S/ß0-thalassemia (Hb S/ß0-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (HBB:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB:c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause ß0-thal.

ß0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

We report two hemoglobinopathy cases involving a novel ß-thalassemia (ß-thal) nonsense mutation, HBB:c.199A > T. One patient had Hb S/ß-thal, and a second unrelated patient had Hb D-Punjab/ß-thal. The HBB:c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A2 ß0-thal.

Newborn Screening for ß-Thalassemia Identifies a Complex Genotype Involving a Novel ß-Globin Gene Mutation (HBB:c.336dup).

Newborn screening identified a Chinese-Canadian infant who was positive for possible ß-thalassemia (ß-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese Gγ(Aγδß)0-thal deletion and a novel frameshift mutation within exon 3 (HBB:c.336dup), and heterozygous for the Southeast Asian α-thal deletion (--SEA/αα). This case illustrates the importance of follow-up molecular testing of positive newborn screening results to confirm the diagnosis and define risks for future pregnancies.

A conceptual model of how mental health clubhouses impact health and quality of life among individuals with serious mental illness.

OBJECTIVE: People with serious mental illness (PWSMI) experience dramatic disparities in health, quality of life, and longevity. Mental health Clubhouses are a community-based treatment model that can positively affect health and quality of life among PWSMI. However, few studies investigate the processes within Clubhouses and what factors are related to the improvement of health and quality of life among members. To address this gap, this research offers a conceptual model of how Clubhouses contribute to health and quality of life. METHOD: This conceptual model was created using participatory qualitative methods, combining Photovoice and grounded theory. Forty-two participants (37 Clubhouse members and six staff) from four Clubhouses in Hawai'i were engaged in 22 sessions over the course of 2 years. RESULTS: The conceptual model begins with quality of participation in Clubhouse activities, which refers not only to being present in the Clubhouse but being actively and meaningfully engaged in Clubhouse activities. Engagement in Clubhouse activities and working side-by-side with members and staff led to reciprocal social support. As members were supported and supported others, they gained a sense that they mattered, and they perceived themselves as more capable, more efficacious, and less stigmatized over time. They became a contributing member of a community, which supported health and quality of life directly and indirectly. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: This work offers a novel conceptual framework of Clubhouse processes that highlights the importance and potential of empowering psychosocial treatment models. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Native Hawaiians' Views on Depression and Preferred Behavioral Health Treatments: a Preliminary Qualitative Investigation.

Behavioral health issues, especially depression, are a major health disparity concern for Native Hawaiians in Hawai'i. Following the cultural safety framework and contextual behavioral science approach to intervention development, the present preliminary qualitative investigation aimed to gather better insight into Native Hawaiians' views of depression and its causes as well as their preferred forms of behavioral health services. Data were initially collected from a 2-hour virtual focus group with three behavioral health service providers working with Native Hawaiians, followed by a total of 38 online one-on-one in-depth interviews with Native Hawaiian clients with depression (n = 19), behavioral health service providers working with Native Hawaiian adults (n = 9), and Native Hawaiian cultural leaders (n = 10). Our qualitative data suggested that Native Hawaiians tend to view depression contextually and socioculturally as the manifestation of one's vital connection to the 'aina (land), 'ohana (family; continuity from ancestry and future generations), community, culture/spirituality, and one's authentic self being disrupted. Our findings also suggested that Native Hawaiians often attribute these disruptions to disparities due to the ongoing impact of colonization, historical trauma, and cultural loss. As a preferred form of treatment for depression, participants recommended various Hawaiian cultural practices to be integrated into existing behavioral health services to nurture the above-mentioned vital connection.

Creative virtual engagement: Successes and challenges supporting people with serious mental illness in hybrid Clubhouse environments.

OBJECTIVE: This study examines adaptations, successes, and persistent challenges engaging members in virtual or hybrid community-based psychosocial rehabilitation centers called Clubhouses. METHODS: Fifteen members and staff from five Clubhouses across two Hawaiian Islands participated in a virtual Photovoice process. RESULTS: Results illustrated several unexpected positive outcomes from the transition to hybrid or virtual formats including opportunities for growth, learning new technology, cross-Clubhouse collaborations, deepened relationships, and better access to some hard-to-reach members. Persistent challenges included members reporting "something missing" in the socioemotional quality of virtual engagement and losing members who had low digital literacy or who preferred in-person engagement. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: Overall, participants described that virtual Clubhouse supported their wellness by fostering a sense of purpose, companionship, and potential, despite sustained uncertainty from the COVID-19 pandemic. However, they also made clear that virtual and hybrid formats should be a complement to, not a replacement for, in-person Clubhouse services. (PsycInfo Database Record (c) 2024 APA, all rights reserved).