Haemoglobin (Hb) abnormalities though quite frequent, are generally detected in populations during surveys and programmes run for prevention of Hb disorders. Several methods are now available for detection of Hb abnormalities. In this review, the following are discussed: (i) the methods used for characterization of haemoglobin disorders; (ii) the problems linked to diagnosis of thalassaemic trait; (iii) the strategy for detection of common Hb variants; and (iv) the difficulties in identification of rare variants. The differences between developing and industrialized countries for the strategies employed in the diagnosis of abnormal haemoglobins are considered. We mention the limits and pitfalls for each approach and the necessity to characterize the abnormalities using at least two different methods. The recommended strategy is to use a combination of cation-exchange high performance chromatography (CE-HPLC), capillary electrophoresis (CE) and when possible isoelectric focusing (IEF). Difficult cases may demand further investigations requiring specialized protein and/or molecular biology techniques.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237254 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Association between the hemoglobin A1c/High-density lipoprotein cholesterol ratio and stroke incidence: a prospective nationwide cohort study in China.
Lipids Health Dis
January 2025
Department of Neurosurgery, The Third Affiliated Hospital of Soochow University, Changzhou, Jiangsu, 213000, China.
Background: Stroke has emerged as an escalating public health challenge among middle-aged and older individuals in China, closely linked to glycolipid metabolic abnormalities. The Hemoglobin A1c/High-Density Lipoprotein Cholesterol (HbA1c/HDL-C) ratio, an integrated marker of glycolipid homeostasis, may serve as a novel predictor of stroke risk.
Methods: Our investigation utilized data from the China Health and Retirement Longitudinal Study cohort (2011-2018).
Cachectic biomarkers as confounders behind the obesity paradox in patients with acute decompensated heart failure.
Int J Obes (Lond)
January 2025
Department of Cardiology, Sakakibara Heart Institute, Tokyo, Japan.
Background: Obesity is a risk factor for heart failure (HF) development but is associated with a lower incidence of mortality in HF patients. This obesity paradox may be confounded by unrecognized comorbidities, including cachexia.
Methods: A retrospective assessment was conducted using data from a prospectively recruiting multicenter registry, which included consecutive acute heart failure patients.
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDFAbnormal Uterine Bleeding Among Rural Adolescent Schoolgirls: A Cross-Sectional Study.
Medicina (Kaunas)
December 2024
Department of Obstetrics and Gynecology, College of Medicine, Qassim University, Buraydah 52571, Saudi Arabia.
: The International Federation of Gynecology and Obstetrics (FIGO) and the American College of Obstetricians and Gynecologists (ACOG) define abnormal uterine bleeding (AUB) as "bleeding from the uterus that is abnormal in regularity, volume, frequency, or duration and occurs in the absence of pregnancy". The impact of AUB on the physical and psychosocial well-being of adolescent girls can be significant. In this study, we aim to investigate the menstrual cycle characteristics in adolescent Sudanese schoolgirls and the prevalence of abnormal uterine bleeding (AUB) and its associated factors.
View Article and Find Full Text PDFPoisoned in their homes - Red blood cell abnormalities in lead-exposed residents of a Pakistani Industrial Zone.
Environ Monit Assess
January 2025
Cancer Biology Lab, Institute of Microbiology and Molecular Genetics, University of the Punjab, Quid-E-Azam Campus, PO Box No. 54590, Lahore, Pakistan.
The present study investigated the clinical and hematological effects of chronic lead exposure in the population residing in Shadi Pura, a small industrial zone in Lahore, Pakistan. A cross-sectional analysis of 149 participants recruited through health camps was conducted to explore the hematological manifestations of environmental lead exposure, focusing on various red blood cell (RBC) indices and morphology. Moreover, the study examined the differences in the impact of lead exposure on RBC indices and morphology between men, women, and children.
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!