The thalassaemias are characterised by quantitative aberrations in the production of the globin chains that make up haemoglobin, and are a subgroup of the haemoglobinopathies. In this LabQuiz we show how thalassaemia carrier status can be indicated in the results of regular laboratory tests, and discuss the laboratory diagnostics that can confirm or rule out thalassaemia. In these two cases we will present a man of Moroccan descent, and two brothers of Filipino descent, all with anaemia and microcytosis. We show it is possible to differentiate between iron-deficiency anaemia and thalassaemia carrier status on the basis of a complete blood count and measurement of ferritin levels, and which laboratory diagnostics can be subsequently performed in order to confirm a suspicion of thalassaemia. The background section discusses the properties and pitfalls of routine laboratory diagnostics for the thalassaemias, and thalassaemia diagnostics in the Dutch newborn screening programme.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Enhancing farmer awareness: Vertical transmission of Neospora caninum in aborting cattle and the value of diagnostics tools.
Vet Parasitol
January 2025
Institute of Parasitology, Vetsuisse Faculty, University of Bern, Länggassstrasse 122, Bern 3012, Switzerland. Electronic address:
The protozoan parasite Neospora caninum is an important cause of abortion in cattle. Infection occurs horizontally by ingestion of oocysts shed by canids or vertically, from an infected dam to the foetus, and may result in abortion, stillbirth, or the birth of subclinically infected offspring. We estimated the occurrence of N.
View Article and Find Full Text PDFEffectiveness of Frequent Point-of-Care Molecular COVID-19 Surveillance in a Rural Workplace: Nonrandomized Controlled Clinical Trial Among Miners.
JMIR Public Health Surveill
January 2025
Center for Global Health, University of New Mexico Health Sciences Center, Albuquerque, NM, United States.
Background: Numerous studies have assessed the risk of SARS-CoV-2 exposure and infection among health care workers during the pandemic. However, far fewer studies have investigated the impact of SARS-CoV-2 on essential workers in other sectors. Moreover, guidance for maintaining a safely operating workplace in sectors outside of health care remains limited.
View Article and Find Full Text PDFDiscovery of Metabolic Reprogramming 2-Quinolones as Effective Antimicrobials for MRSA-Infected Wound Therapy.
J Med Chem
January 2025
State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Key Laboratory for Zoonosis Research of the Ministry of Education, Institute of Zoonosis, and College of Veterinary Medicine, Jilin University, Changchun 130062, China.
To date, the abuse of antibiotics and a gradual decline in novel antibiotic discovery enlarge the threat of drug-resistant bacterial infections, especially methicillin-resistant (MRSA). Herein, inspired by the unique structures and antibacterial activities of 2-quinolones, a class of novel 2-quinolones with substituted pyridines was synthesized. Notably, compound , the derivative with a methylpyridine fragment, showed potent antibacterial and antibiofilm activities, especially for MRSA strains (MIC = 0.
View Article and Find Full Text PDFSLICE-CEA CardioLink-8: A Randomized Trial of Evolocumab on Carotid Artery Atherosclerotic Plaque Characteristics in Asymptomatic High-Risk Carotid Stenosis.
Circulation
January 2025
Divisions of Cardiac Surgery (H.T., A.Q., R.E., R.V., M.M., J.H.C., S.V.), Li Ka Shing Knowledge Institute, St. Michael's Hospital of Unity Health Toronto, Ontario, Canada.
PRRSV-2 nsp2 Ignites NLRP3 inflammasome through IKKβ-dependent dispersed trans-Golgi network translocation.
PLoS Pathog
January 2025
Key Laboratory of Animal Diseases Diagnostic and Immunology, Ministry of Agriculture, MOE International Joint Collaborative Research Laboratory for Animal Health & Food Safety, College of Veterinary Medicine, Nanjing Agricultural University, Nanjing, China.
The NLRP3 inflammasome is a fundamental component of the innate immune system, yet its excessive activation is intricately associated with viral pathogenesis. Porcine reproductive and respiratory syndrome virus type 2 (PRRSV-2), belonging to the family Arteriviridae, triggers dysregulated cytokine release and interstitial pneumonia, which can quickly escalate to acute respiratory distress and death. However, a mechanistic understanding of PRRSV-2 progression remains unclear.
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!