A woman completely lacking Hb A on the high performance liquid chromatography (HPLC) analysis, presented with a novel deletional (εγ)δβ-thal and a δ-globin gene variant. This combination causes a β-thalassemia (β-thal) minor phenotype. The woman was referred by a hematologist due to abnormal blood counts. Multiplex ligation-dependent probe amplification (MLPA) and microarray analysis showed a heterozygous, 177 kb long deletion that removed the locus control region enhancer plus the ε, γ and γ genes. Additional sequencing revealed a novel variant : c.209G>A, p.Gly70Asp in the heterozygous state, called Hb A-Gebenstorf. The combination of the two variants explains the lack of Hb A in this woman.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/03630269.2020.1779739 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Technological Adjuncts to Streamline Patient Recruitment, Informed Consent, and Data Management Processes in Clinical Research: Observational Study.
JMIR Form Res
January 2025
Northwestern Medicine, Chicago, IL, United States.
Background: Patient recruitment and data management are laborious, resource-intensive aspects of clinical research that often dictate whether the successful completion of studies is possible. Technological advances present opportunities for streamlining these processes, thus improving completion rates for clinical research studies.
Objective: This paper aims to demonstrate how technological adjuncts can enhance clinical research processes via automation and digital integration.
From Equity, Diversity, and Inclusion to Justice: Calling in for Collective Learning and Action on Racism in Dietetics.
Can J Diet Pract Res
January 2025
Dalla Lana School of Public Health, University of Toronto, Toronto, ON.
Equity, diversity, and inclusion (EDI) is the prevailing framework that has informed efforts in dietetics to redress racism. Although EDI has strengths, it has several weaknesses that ultimately hinder progress on racism in the profession. In this paper, we present racial justice as an alternative framework that, we assert, engenders more meaningful, purposive, and politically critical language, analysis, and action to redress racism and White supremacy.
View Article and Find Full Text PDFA 58-Year-Old Woman With Urticaria, Fever, and Joint Pain.
JAMA
January 2025
Institute of Allergology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Mental Health Disparities by Sexual Orientation and Gender Identity in the All of Us Research Program.
JAMA Netw Open
January 2025
Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California.
Importance: Limited research explores mental health disparities between individuals in sexual and gender minority (SGM) populations and cisgender heterosexual (non-SGM) populations using national-level data.
Objective: To explore mental health disparities between SGM and non-SGM populations across sexual orientation, sex assigned at birth, and gender identity within the All of Us Research Program.
Design, Setting, And Participants: This cross-sectional study used survey data and linked electronic health records of eligible All of Us Research Program participants from May 31, 2017, to June 30, 2022.
Cervical Cancer Screening in Women With Physical Disabilities.
JAMA Netw Open
January 2025
Department of Family Medicine, University of Michigan, Ann Arbor.
Importance: Cervical cancer screening is a crucial public health intervention, but screening disparities exist for women with physical disabilities (WWPD).
Objective: To explore the experiences of WWPD with both traditional speculum examination-based screening and at-home self-sampling for cervical cancer screening.
Design, Setting, And Participants: This qualitative study enrolled 56 WWPD to test self-sampling kits, provide feedback via a survey, and participate in a qualitative interview.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!