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The Journal of the Royal College of... Dec 2020
Topics: Anemia, Hemolytic; Anemia, Megaloblastic; Folic Acid; Humans; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12
PubMed: 33469636
DOI: 10.4997/JRCPE.2020.430 -
BMJ (Clinical Research Ed.) Apr 2020
Topics: Anemia, Pernicious; Attention; Erythrocyte Indices; Fatigue; Humans; Hydroxocobalamin; Injections, Intramuscular; Missed Diagnosis; Peripheral Nervous System Diseases; Vitamin B 12 Deficiency; Vitamin B Complex
PubMed: 32332011
DOI: 10.1136/bmj.m1319 -
Human Molecular Genetics Aug 2022Autoimmune thyroid disease (AITD) and pernicious anemia (PA) often coexist, but the directionality is unknown. In a two-sample Mendelian randomization (MR) analysis,...
Autoimmune thyroid disease (AITD) and pernicious anemia (PA) often coexist, but the directionality is unknown. In a two-sample Mendelian randomization (MR) analysis, using summary statistics from large genome-wide association studies (GWASs) in Europeans (N = 49 269-755 406), we examined the genetic associations between thyroid function, PA and markers of erythropoiesis. We performed inverse variance weighted random-effects MR, several sensitivity MR analyses, and bidirectional MR and MR Steiger for directionality. AITD and PA were associated bidirectionally (P ≤ 8 × 10-6). Neither euthyroid thyroid stimulating hormone (TSH) nor free thyroxine (FT4) were causally associated with PA. One standard deviation (SD) increase in euthyroid FT4 regulated by genetic variants in deiodinases 1 and 2 genes (DIO1/DIO2), corresponding to low-normal free triiodothyronine (FT3) levels, was causally associated with a pernicious/macrocytic anemia pattern, i.e. decreased erythrocyte counts (rank-based inverse normal transformed β = -0,064 [95% confidence interval: -0,085, -0,044], P = 8 × 10-10) and hemoglobin (-0.028 [-0.051, -0.005], P = 0.02) and increased mean corpuscular hemoglobin (0.058 [0.025, 0.091], P = 5 × 10-4) and mean corpuscular volume levels (0.075 [0.052, 0.098], P = 1 × 10-8). Meanwhile, subclinical hyperthyroidism mirrored that pattern. AITD was causally associated with increased erythrocyte distribution width (P = 0.007) and decreased reticulocyte counts (P ≤ 0.02), whereas high-normal FT4 regulated by DIO1/DIO2 variants was causally associated with decreased bilirubin (-0.039 (-0.064, -0.013), P = 0.003). In conclusion, the bidirectional association between AITD and PA suggests a shared heritability for these two autoimmune diseases. AITD was causally associated with impaired erythropoiesis and not autoimmune hemolysis. Additionally, in euthyroid individuals, local regulation of thyroid hormones by deiodinases likely plays a role in erythropoiesis.
Topics: Anemia, Pernicious; Erythropoiesis; Genome-Wide Association Study; Humans; Mendelian Randomization Analysis; Thyroid Gland; Thyrotropin; Thyroxine
PubMed: 35225327
DOI: 10.1093/hmg/ddac052 -
Best Practice & Research. Clinical... Mar 2023The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which encodes... (Review)
Review
The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which encodes for a key enzyme of the ubiquitylation proteasome system. As a result, a shorter cytoplasmic isoform of UBA1 is transcribed, which is non-functional. The disease is characterized by non-specific and highly heterogeneous inflammatory manifestations and macrocytic anemia. VEXAS syndrome is a unique acquired hematological monogenic disease with unexpected association with hematological neoplasms. Despite its hematopoetic origin, patients with VEXAS syndrome usually present with multi-systemicinflammatory disease and are treated by physicians from many different specialties (rheumatologists, dermatologists, hematologistis, etc.). Furthermore, manifestations of VEXAS may fulfill criteria for existing diseases: relapsing polychondritis, giant cell arteritis, polyarteritis nodosa, and myelodysplastic syndrome. The goal of this review is to depict VEXAS syndrome from a hematologic point of view regarding its consequences on hematopoiesis and the current strategies on therapeutic interventions.
Topics: Humans; Giant Cell Arteritis; Mutation; Myelodysplastic Syndromes; Proteasome Endopeptidase Complex
PubMed: 37652853
DOI: 10.1016/j.berh.2023.101861 -
Critical Care Nursing Clinics of North... Sep 2017This article explores anemia without an obvious cause from two perspectives: a patient and the evidence. Although evidence is required to drive favorable patient... (Review)
Review
This article explores anemia without an obvious cause from two perspectives: a patient and the evidence. Although evidence is required to drive favorable patient outcomes, the focus on evidence often hides the patient experience during diagnosis and treatment. Knowledge of experience with evidence can provide a deeper perspective for clinical decision making and meet nursing's ethical mandate to relieve suffering. Although one patient experience does not reflect every patient experience, this patient's experience demonstrates how difficult and dark anemia can be.
Topics: Anemia, Pernicious; Clinical Decision-Making; Critical Care Nursing; Depression; Humans; Vitamin B 12 Deficiency
PubMed: 28778298
DOI: 10.1016/j.cnc.2017.04.007 -
International Journal of Laboratory... Apr 2022In this review of megaloblastic anemia (MA), an overview of vitamin B and folate body requirements, biochemical pathways, and laboratory testing strategies will be... (Review)
Review
In this review of megaloblastic anemia (MA), an overview of vitamin B and folate body requirements, biochemical pathways, and laboratory testing strategies will be provided. However, the focus of this review is the classic and unique features of MA in blood and bone marrow. Acquired MA is a benign disorder for many, but can be detrimental for some. The clinical presentation can vary considerably, and the spectrum of symptoms and signs is diverse and quite broad. Prompt recognition and therapy are critical to prevent potential irreversible damage and clinical sequelae, especially in patients with vitamin B deficiency. A delay in diagnosis of vitamin B deficiency can result in significant neurologic sequelae that may not fully resolve with treatment, including in neonates and young infants. The blood and bone marrow features in MA can closely mimic thrombocytopenic purpura, myelodysplasia, and other myeloid neoplasms. Both pancytopenia and normal MCV at presentation are common in MA and raise unique challenges for the diagnostician. Partially treated MA is also a significant diagnostic "trap". MA is highly responsive to treatment, and patients tend to improve rapidly upon treatment initiation. However, the broad range of clinical and hematologic features makes the rapid, successful diagnosis of MA a unique challenge for the hematopathologist. Even in the era of state-of-the-art laboratory testing, a high suspicion is required.
Topics: Anemia, Megaloblastic; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 34981651
DOI: 10.1111/ijlh.13789 -
The New England Journal of Medicine Oct 2019
Topics: Anemia, Pernicious; Atrophy; Glossitis; Humans; Male; Middle Aged; Tongue
PubMed: 31618542
DOI: 10.1056/NEJMicm1902490 -
Journal of Family Medicine and Primary... Jun 2022Anemia in the elderly is a cause of concern. It is not merely physiological due to aging and requires appropriate evaluation. Anemia has a significant negative impact on...
BACKGROUND
Anemia in the elderly is a cause of concern. It is not merely physiological due to aging and requires appropriate evaluation. Anemia has a significant negative impact on cardiac function, cognition, sleep, frequent hospitalization, mobility, morbidity, and mortality. Anemia in the elderly is attributable to many causes: nutrient deficiencies, chronic inflammatory diseases, thyroid disorders, diabetes mellitus, gastrointestinal (GI) tumors and bleeding, chemotherapy-induced anemia, and drug-induced hemolysis.
OBJECTIVES
We aimed to evaluate the clinical and hematological profile of anemia in 100 patients aged above 60 years.
METHODS AND MATERIAL
We performed a cross-sectional type of study in a tertiary care center including male and female patients aged 60 years and above and whose hemoglobin was less than 13 g/dl and less than 12 g/dl, respectively. Clinical history, complete blood picture, and peripheral smear were obtained in all patients. Serum iron profile was done in patients with micro-normocytic anemia. Vitamin B12 and folate assays were done in patients with normo-macrocytic anemia and those with pancytopenia. Bone marrow studies and endoscopies were done in cases wherever deemed appropriate.
RESULTS
The majority of the patients had either severe or moderate anemia. 49% of the patients had normocytic anemia. The commonest cause for anemia was nutritional deficiencies (45%) followed by anemia of chronic inflammation (40%) and unexplained anemia (8%).
CONCLUSIONS
It is essential that anemia deserves its due attention in clinical practice in older patients and is not normal always.
PubMed: 36119248
DOI: 10.4103/jfmpc.jfmpc_2239_21 -
Laboratory Animal Research Feb 2022The common marmoset is widely used in current biomedical research for various research fields. We observed macrocytic anemia in a perinatal common marmoset with gradual...
BACKGROUND
The common marmoset is widely used in current biomedical research for various research fields. We observed macrocytic anemia in a perinatal common marmoset with gradual weight loss and diarrhea. The objective of this case report is to describe the diagnosis and treatment of macrocytic anemia in a perinatal common marmoset.
CASE PRESENTATION
A 7-year-old female common marmoset showed clinical signs of gradual weight loss and intermittent diarrhea beginning 3 months after giving birth. Macrocytic anemia was diagnosed due to a decreased red blood cell (RBC) count, low hemoglobin level, and increased mean corpuscular volume (MCV). Multivitamins containing cobalamin and folate were administered for 7 days, and the patient's RBC count recovered to near the normal range with this treatment.
CONCLUSIONS
Macrocytic anemia can be diagnosed by evaluating the MCV on a complete blood count (CBC) and cobalamin or folate levels and be treated by supplementation with cobalamin and folate. Such supplements may be needed during pregnancy and lactation in female common marmosets and/or in animals with chronic diarrhea.
PubMed: 35227328
DOI: 10.1186/s42826-022-00115-6 -
Experimental Hematology Nov 2020The discovery that the immunomodulatory imide drugs (IMiDs) possess antitumor properties revolutionized the treatment of specific types of hematological cancers. Since... (Review)
Review
The discovery that the immunomodulatory imide drugs (IMiDs) possess antitumor properties revolutionized the treatment of specific types of hematological cancers. Since then, much progress has been made in understanding why the IMiDs are so efficient in targeting the malignant clones in difficult-to-treat diseases. Despite their efficacy, IMiD resistance arises eventually. Herein we summarize the mechanisms of sensitivity and resistance to lenalidomide in del(5q) myelodysplastic syndrome and multiple myeloma, two diseases in which these drugs are at the therapeutic frontline. Understanding the molecular and cellular mechanisms underlying IMiD efficacy and resistance may allow development of specific strategies to eliminate the malignant clone in otherwise incurable diseases.
Topics: Adaptor Proteins, Signal Transducing; Anemia, Macrocytic; Angiogenesis Inhibitors; Antineoplastic Agents; Autophagy; Cell Differentiation; Chromosome Deletion; Chromosomes, Human, Pair 5; Cytokines; Disease Progression; Drug Resistance, Neoplasm; Gene Expression Regulation, Neoplastic; Humans; Ikaros Transcription Factor; Immunologic Factors; Lenalidomide; Megakaryocytes; Multiple Myeloma; Neoplasm Proteins; Neovascularization, Pathologic; Phosphoprotein Phosphatases; Ubiquitin-Protein Ligases
PubMed: 32976949
DOI: 10.1016/j.exphem.2020.09.196