Background And Objectives: Hemoglobinopathies are monogenic disorders with autosomal recessive inheritance. In Europe, with increased migration flows these conditions are appearing more frequently in non-endemic regions. HbA testing is useful for evaluating long-term glycaemic status in diabetes mellitus patients. During HbA evaluation, other hemoglobin fractions are detected, such as structural hemoglobinopathies. The principal objective of this work is to study the incidence of structural hemoglobinopathies in our area and their management.
Material And Methods: Total population of 65,000 patients for glycaemic monitoring was evaluated with HPLC equipment (HPLC-ARKRAY® ADAMS, Menarini Diagnostics, Italy). This equipment quantifies different hemoglobin fractions.
Results: We identified a total of 128 variants, representing an incidence with respect to the study population of 0.19% (1.97‰). Most (69) were identified in the foreign population, and the most frequent variant identified was heterozygous S hemoglobinopathy. In six families, structural hemoglobinopathy was identified. Three patients with HbS/HbS were detected. Primary Health Centers were the origin of an important part of these variants (82).
Conclusions: Our study describes a low incidence for structural variants compared with the estimated incidence in Spain. These variants can interfere with HbA testing. In these cases, glycated protein study is an appropriate alternative to monitor diabetic therapy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.medcli.2020.11.037 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gene therapy for sickle cell disease: recent advances, clinical trials and future directions.
Cytotherapy
December 2024
Molecular and Clinical Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. Current treatments have variable efficacy and require lifelong adherence. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor availability limits its widespread applicability.
View Article and Find Full Text PDFPrevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children: A cross-sectional study.
J Family Med Prim Care
November 2024
Department of Oral Medicine, Diagnosis and Radiology, Yogita Dental College and Hospital, Khed, Ratnagiri, Maharashtra, India.
Background: Thalassemia is a hemoglobinopathy-associated genetic disease resulting due to defective synthesis of globin chains, causing defects in the skeletal and oral structures.
Aim: This cross-sectional study was designed to analyze the prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children.
Materials And Methods: Institutional Ethical committee clearance was obtained before starting the study.
Hydroxyurea blunts mitochondrial energy metabolism and osteoblast and osteoclast differentiation exacerbating trabecular bone loss in sickle cell mice.
Cell Death Dis
December 2024
Division of Endocrinology, Metabolism, and Lipids, Department of Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Sickle cell disease (SCD) is a severe hematological disorder characterized by erythrocyte sickling that causes significant morbidity and mortality. Skeletal complications of SCD include a high incidence of bone loss, especially in vertebrae, leading to fragility fractures that contribute to disease burden. Whether hydroxyurea (HU), a front-line therapy for SCD ameliorates bone disease has not been established.
View Article and Find Full Text PDFIntroduction: Individuals living with sickle cell disease (SCD) commonly report impaired health-related quality of life (HRQoL). However, impacts of SCD on HRQoL and the unmet needs of SCD treatment/management are under-researched. This study characterized the impact of SCD on HRQoL and identified the unmet needs of individuals with SCD.
View Article and Find Full Text PDFEnd-of-life care for people with sickle cell disease: barriers to and facilitators of high-quality care.
Hematology Am Soc Hematol Educ Program
December 2024
Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL.
End-of-life (EOL) care is a critical part of sickle cell disease (SCD) management. However, barriers to high-quality EOL care remain, including (1) disease-related barriers (prior opioid exposure, risk of vaso-occlusive crises, chronic conditions with conflicting needs, and limitations of receiving disease-directed therapy on hospice); (2) communication-related barriers (challenges of identifying and responding to religious and spiritual concerns, limited health literacy, and previous health care system experience); (3) systemic issues (social determinants of health, structural racism, and mistrust of the medical system). However, palliative care and interdisciplinary collaboration can overcome many of these barriers.
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!