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Cureus Jan 2024Cobalamin, also known as vitamin B12, is a water-soluble vitamin. Cobalamin deficiency can be frequently seen in people all around the world. It can have non-specific... (Review)
Review
Cobalamin, also known as vitamin B12, is a water-soluble vitamin. Cobalamin deficiency can be frequently seen in people all around the world. It can have non-specific symptoms, and in patients who are in a very critical state, it can lead to neurological or hematological abnormalities. While pernicious anemia used to be the main cause, it now accounts for a smaller number of cases, with food-bound cobalamin malabsorption being more common. Early diagnosis and appropriate management are crucial to avoid severe complications like spinal cord degeneration and pancytopenia. The primary method of treatment has been injections of vitamin B12 which are given through the intramuscular route but now the oral replacement therapy has also been very effective in treating the patients. There is increasing evidence linking increased levels of vitamin B12 to hematological and hepatic disorders, particularly cancers. This review has primarily highlighted the metabolism, clinical manifestations, diagnosis, and treatment of cobalamin deficiency in the past decade.
PubMed: 38344487
DOI: 10.7759/cureus.52153 -
Current Opinion in Hematology May 2024Over the last century, the diseases associated with macrocytic anemia have been changing with more patients currently having hematological diseases including... (Review)
Review
PURPOSE OF REVIEW
Over the last century, the diseases associated with macrocytic anemia have been changing with more patients currently having hematological diseases including malignancies and myelodysplastic syndrome. The intracellular mechanisms underlying the development of anemia with macrocytosis can help in understanding normal erythropoiesis. Adaptations to these diseases involving erythroid progenitor and precursor cells lead to production of fewer but larger red blood cells, and understanding these mechanisms can provide information for possible treatments.
RECENT FINDINGS
Both inherited and acquired bone marrow diseases involving primarily impaired or delayed erythroid cell division or secondary adaptions to basic erythroid cellular deficits that results in prolonged cell division frequently present with macrocytic anemia.
SUMMARY OF FINDINGS
In marrow failure diseases, large accumulations of iron and heme in early stages of erythroid differentiation make cells in those stages especially susceptible to death, but the erythroid cells that can survive the early stages of terminal differentiation yield fewer but larger erythrocytes that are recognized clinically as macrocytic anemia. Other disorders that limit deoxynucleosides required for DNA synthesis affect a broader range of erythropoietic cells, but they also lead to macrocytic anemia. The source of macrocytosis in other diseases remains uncertain.
Topics: Humans; Erythropoiesis; Anemia; Anemia, Macrocytic; Erythrocytes; Myelodysplastic Syndromes
PubMed: 38334746
DOI: 10.1097/MOH.0000000000000804 -
Frontiers in Immunology 2024VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic...
VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center. The use of NGS, together with morphological assays, integrated with the WHO 2022 criteria, allowed to identify three subsets of VEXAS associated cytopenias: ICUS (idiopathic cytopenia of uncertain significance), CCUS (clonal cytopenia of uncertain significance) at high risk of clonal evolution, and MDS. This approach could help to better understand the nature of VEXAS associated cytopenias and to guide the use of specific targeted treatments in order to achieve long lasting responses.
Topics: Humans; Cytopenia; Myelodysplastic Syndromes; Clonal Evolution; World Health Organization; Skin Diseases, Genetic
PubMed: 38333211
DOI: 10.3389/fimmu.2024.1354130 -
Joint Bone Spine Feb 2024VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years,...
VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years, caused by somatic mutation in the UBA1 gene, a X-linked gene involved in the activation of ubiquitin system. Patients present a broad spectrum of inflammatory manifestations (fever, neutrophilic dermatosis, chondritis, pulmonary infiltrates, ocular inflammation, venous thrombosis) and hematological involvement (macrocytic anemia, thrombocytopenia, vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow) that are responsible for a significant morbidity and mortality. The therapeutic management is currently poorly codified but is based on two main approaches: controlling inflammatory symptoms (by using corticosteroids, JAK inhibitor or tocilizumab) or targeting the UBA1-mutated hematopoietic population (by using azacitidine or allogeneic hematopoietic stem cell transplantation). Supportive care is also important and includes red blood cell or platelet transfusions, erythropoiesis stimulating agents, thromboprophylaxis and anti-infectious prophylaxis. The aim of this review is to provide a current overview of the VEXAS syndrome, particularly focusing on its pathophysiological, diagnostic and therapeutic aspects.
PubMed: 38307404
DOI: 10.1016/j.jbspin.2024.105700 -
Women's Health (London, England) 2024Anemia is a significant public health concern, primarily affecting young children, pregnant and postpartum women, and menstruating adolescent girls and women. This study...
Prevalence and factors influencing anemia in women of reproductive age visiting a tertiary care hospital (Jinnah Postgraduate Medical Center) in Karachi: A cross-sectional study.
INTRODUCTION
Anemia is a significant public health concern, primarily affecting young children, pregnant and postpartum women, and menstruating adolescent girls and women. This study aimed to evaluate the prevalence of anemia and associated factors in women of reproductive age visiting a tertiary care hospital in Karachi, Pakistan.
OBJECTIVE
The primary objective was to determine the prevalence of anemia in women of reproductive age, while the secondary objective was to investigate potential causes of anemia within this demographic group.
DESIGN
A prospective cross-sectional approach was employed, adhering to Strengthening the Reporting of Observational Studies in Epidemiology guidelines. A questionnaire-based method was used to assess anemia, and data were collected from women aged 14 to 40 years.
METHOD
The study was conducted at the Jinnah Postgraduate Medical Center from January to May 2023. The study was approved by the Institutional Review Board of Jinnah Sindh Medical University (Institutional Review Board reference number JSMU/IRB/2023/699). A sample of 397 women was included, and various demographic and lifestyle factors were assessed.
RESULTS
In this study of 397 participants, 71.5% were found to have anemia, primarily microcytic anemia (48.2%). Anemia prevalence was highest among the 14-18 years age group (80.7%) and those from lower socioeconomic backgrounds (73.6%). Factors such as frequent tea consumption, irregular mealtimes, and pica consumption were associated with higher anemia rates. Pregnant women and those with more children were at a heightened risk of anemia.
CONCLUSION
The study reveals a notable prevalence of anemia among women of reproductive age with a surprising emphasis on younger individuals and lower socioeconomic groups. Dietary habits, lifestyle choices, and pregnancy status play significant roles in anemia development. Targeted interventions are essential, particularly for younger women, those from disadvantaged backgrounds, and pregnant individuals, to combat anemia effectively in this region.
Topics: Adolescent; Female; Humans; Pregnancy; Anemia; Cross-Sectional Studies; Prevalence; Prospective Studies; Risk Factors; Tertiary Care Centers; Young Adult; Adult
PubMed: 38282529
DOI: 10.1177/17455057241227364 -
Cureus Dec 2023Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary...
Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary consumption, pernicious anemia should be considered as it is a common cause. Pernicious anemia is an autoimmune atrophic gastritis impairing the absorption of vitamin B12. Manifestations include neurological changes, macrocytic anemia, glossitis, and nail changes. Hemolytic anemia is an unusual complication of vitamin B12 deficiency and an even more unusual initial presentation. This case identifies a patient with previously undiagnosed pernicious anemia with severe vitamin B12 deficiency compounded by hemolytic anemia as the presenting symptom. Overall, this case highlights the importance of considering vitamin B12 deficiency-related hemolytic anemia and the need for further research into the causes and pathophysiology of vitamin B12-induced hemolysis due to its potential for fatal outcomes despite being easily treatable with cost-effective methods to treat.
PubMed: 38226075
DOI: 10.7759/cureus.50534 -
Pediatric Blood & Cancer Apr 2024
Topics: Humans; Child; Homocystinuria; Anemia, Megaloblastic; Vitamin B 12
PubMed: 38217084
DOI: 10.1002/pbc.30867 -
Persistent proteinuria in a child with a previous diagnosis of macrocytic anemia: a nephrology quiz.Journal of Nephrology Apr 2024
Topics: Humans; Proteinuria; Anemia, Macrocytic; Male; Child; Female
PubMed: 38198047
DOI: 10.1007/s40620-023-01852-0 -
MedRxiv : the Preprint Server For... Dec 2023Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for...
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with biallelic loss of function in , a key CIA component, develop proximal and axial muscle weakness, fluctuating creatine kinase elevation and respiratory insufficiency. In addition, they present with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, macrocytic anemia and gastrointestinal symptoms. Mutational analysis and functional assays revealed reduced stability of the variants compared to wild-type CIAO1. Loss of CIAO1 impaired DNA helicases, polymerases and repair enzymes which rely on the CIA complex to acquire their Fe-S cofactors, with lentiviral restoration reversing all patient-derived cellular abnormalities. Our study identifies as a novel human disease gene and provides insights into the broader implications of the iron-sulfur assembly pathway in human health and disease.
PubMed: 38196629
DOI: 10.1101/2023.12.20.23300170 -
BMJ Case Reports Jan 2024IgM monoclonal gammopathies such as IgM myeloma and Waldenström macroglobulinaemia are distinct haematological conditions; however, differentiating between these...
IgM monoclonal gammopathies such as IgM myeloma and Waldenström macroglobulinaemia are distinct haematological conditions; however, differentiating between these entities can often present as a challenge.In this review, we explore the challenging diagnosis and treatment of IgM myeloma in a patient presenting with unexplained macrocytic anaemia, elevated serum protein and IgM levels in the absence of t(11;14) and lytic bone lesions that are classically associated with the diagnosis of IgM myeloma. The diagnosis was established based on 40% monoclonal plasma cell population on a bone marrow biopsy, gain of 1q21 on fluorescence in situ hybridisation, cyclin D1 positivity and absence of MYD88 mutation.
Topics: Humans; Multiple Myeloma; Bone Marrow; Plasma Cells; Waldenstrom Macroglobulinemia; Immunoglobulin M
PubMed: 38176750
DOI: 10.1136/bcr-2022-253328