The beta-thalassemia mutations of 13 unrelated heterozygous Germans who remained unidentified in a previous study of 40 subjects were investigated at the DNA level. Two Mediterranean, one Asian and three novel mutations (CD6 -G, CDs 108 /112-12nt, CDs 130/131 + GCCT) were identified. Altogether, in 30 of the 35 subjects (86%) in which a mutation in the beta-globin gene was identified, the mutation was of Mediterranean origin. The geographical distribution suggests recent migration from the Mediterranean region as cause of the high proportion of frequent Mediterranean beta-thalassemia mutations in the German population. Our results support the notion that the majority of beta-thalassemia genes in the western and central European population are of Mediterranean origin.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/(sici)1098-1004(1999)13:3<258::aid-humu16>3.0.co;2-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A multi-country cohort database study to assess pregnancy and infant outcomes after potential maternal or paternal exposure to cladribine tablets in the treatment of multiple sclerosis: the CLEAR study methods and status update.
Ther Adv Neurol Disord
January 2025
EMD Serono Research & Development Institute, Inc., Billerica, MA, USA, an affiliate of Merck KGaA.
Background: Cladribine tablets are contraindicated during pregnancy; therefore, safety data on pregnancies exposed to this treatment are limited. CLEAR collects and describes pregnancy outcomes in this understudied population.
Objectives: To describe the main features of the CLEAR study design, including the data sources and the methodological approach, and provide a status update.
A gut instinct for childhood leukemia prevention: microbiome-targeting recommendations aimed at parents and caregivers.
Front Public Health
January 2025
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Centre of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
Childhood leukemia accounts for 30% of all pediatric cancer cases with acute lymphoblastic leukemia (ALL) being the most common subtype. Involvement of the gut microbiome in ALL development has recently garnered interest due to an increasing recognition of the key contribution the microbiome plays in maintaining the immune system's homeostatic balance. Commensal gut microbiota provide a first line of defense against different pathogens and gut microbiome immaturity has been implicated in ALL pathogenesis.
View Article and Find Full Text PDFEvidence-based exercise recommendations to improve functional mobility in older adults - A study protocol for living systematic review and meta-analysis.
Open Res Eur
January 2025
Neuromotor Behavior and Exercise, University of Münster, Münster, Germany.
Background And Objectives: This is a protocol for a living systematic review and meta-analysis.This review will assess the effects of state-of-the-art exercise interventions designed to promote functional mobility. Therefore, after identifying all potential interventions, we will use the F.
View Article and Find Full Text PDFHeadache after pediatric traumatic brain injury: a comparison between a post-acute sample of children and adolescents and general population.
J Headache Pain
January 2025
Department of Psychology, University of Innsbruck, Innsbruck, Austria.
Background: Headache is one of the most common post-concussion symptoms following pediatric traumatic brain injury (TBI). To better understand its impact on young individuals, this study aims to investigate the prevalence of headache in a German-speaking post-acute pediatric TBI sample and compare it with the general population. In addition, factors associated with the development of pediatric post-TBI headache are investigated to improve the understanding of this condition.
View Article and Find Full Text PDFmsiFlow: automated workflows for reproducible and scalable multimodal mass spectrometry imaging and microscopy data analysis.
Nat Commun
January 2025
Institute for Experimental Immunology and Imaging, University Hospital Essen, Essen, Germany.
Multimodal imaging by matrix-assisted laser desorption ionisation mass spectrometry imaging (MALDI MSI) and microscopy holds potential for understanding pathological mechanisms by mapping molecular signatures from the tissue microenvironment to specific cell populations. However, existing software solutions for MALDI MSI data analysis are incomplete, require programming skills and contain laborious manual steps, hindering broadly applicable, reproducible, and high-throughput analysis to generate impactful biological discoveries. Here, we present msiFlow, an accessible open-source, platform-independent and vendor-neutral software for end-to-end, high-throughput, transparent and reproducible analysis of multimodal imaging data.
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!