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
Leading Women in Respiratory Care: Letter From Saudi Arabia.
Respirology
January 2025
Department of Respiratory Care, College of Medical Applied Sciences, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Special Series: Leading Women in Respiratory Clinical Sciences.
View Article and Find Full Text PDFASO Visual Abstract: The Incidence of Adjacent Synchronous Ipsilateral Infiltrating Carcinoma and/or Ductal Carcinoma In Situ in Patients Diagnosed with Flat Epithelial Atypia by Core Needle Biopsy (TBCRC 034).
Ann Surg Oncol
January 2025
Division of Breast Surgery, Department of Surgery, Brigham and Women's Hospital, Boston, MA, USA.
Preserved brain youthfulness: longitudinal evidence of slower brain aging in superagers.
Geroscience
January 2025
Department of Neurology, Ewha Womans University Mokdong Hospital, Ewha Womans University College of Medicine, Seoul, Republic of Korea.
Background: Superagers, older adults with exceptional cognitive abilities, show preserved brain structure compared to typical older adults. We investigated whether superagers have biologically younger brains based on their structural integrity.
Methods: A cohort of 153 older adults (aged 61-93) was recruited, with 63 classified as superagers based on superior episodic memory and 90 as typical older adults, of whom 64 were followed up after two years.
Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.
J Assist Reprod Genet
January 2025
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Genetics, Reproduction and Development, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium.
Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.
View Article and Find Full Text PDFEgg donation advertisements: addressing the regulatory gap.
J Assist Reprod Genet
January 2025
The University of Texas Medical Branch at Galveston, Institute for Bioethics and Health Humanities, School of Public and Population Health, Galveston, TX, USA.
Egg donation is a procedure that is powerfully advertised as a beneficial experience with limited mention of the associated risks. Egg donor recruitment advertisements target young and financially insecure women and can serve as a catalyst for interest in egg donation. In the absence of explicit egg donation advertisement regulations and without counterbalancing information from other sources, potential donors may not be able to recognize how advertisements can be misleading.
View Article and Find Full Text PDFWant 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!