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Journal of Medical Case Reports Sep 2021In ineffective erythropoiesis, hepcidin synthesis is suppressed by erythroid regulators, namely erythroferrone and growth differentiation factor-15. For the first time,...
BACKGROUND
In ineffective erythropoiesis, hepcidin synthesis is suppressed by erythroid regulators, namely erythroferrone and growth differentiation factor-15. For the first time, the hypothesis that iron overload in megaloblastic anemia may be related to ineffective erythropoiesis is explored by describing the kinetics of hepcidin, erythroferrone, and growth differentiation factor-15 levels in a patient diagnosed with megaloblastic anemia associated with iron overload.
CASE PRESENTATION
An 81-year-old Caucasian male was admitted for fatigue. He had type-2 diabetes previously treated with metformin, ischemic cardiac insufficiency, and stage-3 chronic kidney disease. Vitiligo was observed on both hands. Biological tests revealed normocytic non-regenerative anemia associated with hemolysis, thrombocytopenia, and elevated sideremia, ferritin, and transferrin saturation levels. Megaloblastic anemia was confirmed with undetectable blood vitamin B12 and typical cytological findings like hyper-segmented neutrophils in blood and megaloblasts in bone marrow. The patient received vitamin B12 supplementation. At 3 months, biological parameters reached normal values. Hepcidin kinetics from diagnosis to 3 months inversely correlated with those of erythroferrone and growth differentiation factor-15.
CONCLUSIONS
This case suggests that iron-overload mechanisms of dyserythropoietic anemias may apply to megaloblastic anemias.
Topics: Aged, 80 and over; Anemia; Anemia, Megaloblastic; Erythropoiesis; Humans; Iron; Iron Overload; Male
PubMed: 34538261
DOI: 10.1186/s13256-021-03065-0 -
Cureus Oct 2022Background Pancytopenia is more of a manifestation of a spectrum of underlying diseases affecting the bone marrow. Specific treatment relies solely on early diagnosis...
Background Pancytopenia is more of a manifestation of a spectrum of underlying diseases affecting the bone marrow. Specific treatment relies solely on early diagnosis and identification of the accurate etiology. We aimed to generate data on the clinical and etiological profiles of patients diagnosed with pancytopenia. Materials and methods Fifty patients more than 13 years of age with pancytopenia who reported to a tertiary care hospital were included in the study. Thorough clinical examination, hematological investigation, and bone marrow biopsies were performed, and relevant data were recorded and analyzed statistically. Results Pancytopenia was most common in the age group of 25-34 years, with a male preponderance. The most common presenting complaints were fatigue and fever, with pallor present in all patients, followed by splenomegaly and hepatomegaly in a few patients. Aplastic anemia is the most common cause of pancytopenia, followed by megaloblastic anemia and leukemia. Conclusion While fatigue and fever are the most usual symptoms of pancytopenia, clinical pallor, hepatomegaly, and splenomegaly may be evident. Among the several etiologies, aplastic anemia is one of the most common causes of pancytopenia.
PubMed: 36407228
DOI: 10.7759/cureus.30449 -
Head and Neck Pathology Mar 2019Erythematous lesions of the oral mucosa are common and can reflect a variety of conditions, ranging from benign reactive or immunologically-mediated disorders to... (Review)
Review
Erythematous lesions of the oral mucosa are common and can reflect a variety of conditions, ranging from benign reactive or immunologically-mediated disorders to malignant disease. Together with vascular abnormalities, which can vary from reddish to bluish-purple in color, the differential diagnosis for erythematous oral mucosal change is quite diverse. This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and neoplasms, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, granulomatosis with polyangiitis (Wegener granulomatosis), megaloblastic anemia, and erythroplakia. Recognition of the characteristic clinical features of these conditions, in conjunction with thorough patient history, will allow clinicians to narrow the differential diagnosis and guide appropriate clinical decision making, including the need for tissue biopsy, in order to complete the diagnostic process and initiate optimal patient care.
Topics: Erythema; Humans; Mouth Diseases; Mouth Mucosa; Vascular Diseases
PubMed: 30693460
DOI: 10.1007/s12105-019-01002-8 -
Journal of Family Medicine and Primary... Jun 2022Anemia is the most common haematological disorder in pregnancy. Anemia increases maternal morbidity and mortality. It is a condition that can be diagnosed and treated...
UNLABELLED
Anemia is the most common haematological disorder in pregnancy. Anemia increases maternal morbidity and mortality. It is a condition that can be diagnosed and treated during antenatal period, preventing the serious complications of anemia during pregnancy and labour.
AIMS
This study investigated the prevalence of types of anemia during pregnancy and fetomaternal outcomes among pregnant women.
STUDY DESIGN
This was a cross-sectional study that enrolled 1100 pregnant women who were in the third trimester of pregnancy with haemoglobin level <11.0 gm/dl between March 2019 and August 2020.
METHODS AND MATERIAL
Participants were selected by consecutive sampling and baseline data were collected by using a predesigned and pretested structured questionnaire.
DATA ANALYSIS
Data were entered and analysed by using SPSS version 20.
RESULTS
The prevalence of anemia in third-trimester pregnancy in this study was 91.05%. Iron deficiency anemia was most common (69.18%) among pregnant women followed by megaloblastic anemia (2.5%). Most of pregnant women (45.90%) were mildly anemic. Mean ± SD of haematological parameters among the anemic pregnant women during third trimester of pregnancy were haemoglobin (8.08±2.24 gm/dl), haematocrit (28.92±7.78%), mean corpuscular volume (MCV) (93.02±11.32fl), mean corpuscular haemoglobin (MCH) (26.03±2.90 pg), mean corpuscular haemoglobin concentration(MCHC) (27.99 ± 2.01 gm/dl), RBC count (3.05 ± 0.67million/mm3). Most common maternal complications due to anemia in pregnancy was preterm labour (30%). Fetal outcome in the form of an alive term, most commonly seen in mild anemia (34.7%), fetal complications like Preterm alive (11.3%), preterm intrauterine fetal death (IUFD) (2.7%) most commonly associated with severe anemia.
CONCLUSION
The present study concludes that the prevalence of anemia among pregnant women in third trimester of pregnancy was 91.05% which is a serious public health problem. Proper counselling to the patients and their family members regarding cause of anemia, effect of anemia and complications of anemia. So, that such preventable condition can be prevented.
PubMed: 36119206
DOI: 10.4103/jfmpc.jfmpc_2418_21 -
BMC Endocrine Disorders Jan 2023Diabetes mellitus is one of the most common diseases worldwide with significant morbidity and mortality. HbA1c remains one of the most important methods for diagnosis...
BACKGROUND
Diabetes mellitus is one of the most common diseases worldwide with significant morbidity and mortality. HbA1c remains one of the most important methods for diagnosis and monitoring of the disease. Since HbA1c is a reflection of the glucose attached to red blood cells, factors affecting hemoglobin and red blood cells' half-life can influence HbA1c measurements.
OBJECTIVE
This study aims to evaluate the effect of different types of anemia including iron deficiency anemia, sickle cell anemia, β -thalassemia trait, and megaloblastic anemia on HbA1c levels in a tertiary hospital over the past 6 years (2016-2022).
METHOD
This is a retrospective chart review study of 324 patients including those with one of the four types of anemia mentioned above and a control group. The control group were healthy adults with normal HbA1c and hemoglobin, who were not known to have diabetes or anemia. Patients with diabetes or prediabetes based on self-reporting or elevated fasting, random blood sugar, or 2 hours post-prandial blood glucose were excluded.
RESULTS
The mean HbA1c levels were significantly higher in sickle cell anemia at 5.83% (95% CI = 5.39-6.28) and in iron deficiency anemia at 5.75% (95% CI = 5.68-5.82) when compared to the control group at 5.32% (95% CI = 5.22-5.41). However, the mean HbA1c levels in megaloblastic anemia were 5.38% (95% CI = 5.26-5.5) and 5.45% (95% CI = 5.21-5.69) in beta thalassemia trait, which were not significantly different when compared to the control group. HbA1c significantly decreased from 5.75 to 5.44% after treatment in the iron-deficient group with a p-value of < 0.001. Moreover, lower hemoglobin and higher red cell distribution width correlated with higher HbA1c levels in patients with sickle cell anemia.
CONCLUSION
This study found a significant increase in HbA1c levels in iron deficiency anemia and sickle cell disease in patients not known to have diabetes. However, there was no significant effect in those patients with β-thalassemia trait and megaloblastic anemia. Treatment of iron deficiency anemia significantly decreased the HbA1c level, bringing it back to normal.
Topics: Adult; Humans; Glycated Hemoglobin; Anemia, Iron-Deficiency; Retrospective Studies; Hemoglobins; Diabetes Mellitus; Anemia, Sickle Cell; beta-Thalassemia; Anemia, Megaloblastic
PubMed: 36709277
DOI: 10.1186/s12902-023-01280-y -
Journal of Tropical Pediatrics Jan 2021COVID-19 is uncommon and less severe in children than adults. It is thought that infants may be at higher risk for severe disease than older children. There is a paucity...
BACKGROUND
COVID-19 is uncommon and less severe in children than adults. It is thought that infants may be at higher risk for severe disease than older children. There is a paucity of literature on infants with COVID, particularly those with severe disease.
OBJECTIVE
We describe demographic, epidemiologic, clinical, radiological, laboratory features and outcomes of infants with confirmed SARS-CoV-2 infection admitted to a tertiary care teaching hospital in Pune, India.
METHODOLOGY
Infants who tested positive for SARS-CoV-2 and were admitted between 1 April 2020 and 7 August 2020 were included in the study.
RESULTS
A total of 13 infants were admitted during the study period. The median age was 8 months (IQR 6) and nine were male. Common presenting features were fever (n = 8, 62%), poor feeding, irritability, and runny nose (n = 3, 23%). Comorbidities noted were severe acute malnutrition (SAM) in three cases (23%) and nutritional megaloblastic anemia, iron deficiency anemia, sickle thalassemia and renal calculi in one case (8%) each. There was a history of low birth weight in two cases (15%). Pallor was noted in three cases (23%), SAM in three cases (23%) and tachypnea and respiratory distress in four cases (30%). Severe anemia, thrombocytopenia, elevated ferritin, abnormal procalcitonin, abnormal C Reactive Protein and deranged D-dimer was noted in three cases (23%) each. Neutrophil-lymphocyte ratio was normal in all cases. Three infants (43%) had evidence of pneumonia on the chest radiograph, of which one had adult respiratory distress syndrome (ARDS) like pattern, one infant had cardiomegaly and perihilar infiltrates. Hydroxychloroquine and azithromycin were given to five patients (38%), Intravenous Immunoglobulin and methylprednisolone were administered to one patient (8%). One infant died of ARDS with multi-organ dysfunction with refractory shock and hemophagocytic lymphohistiocytosis.
CONCLUSION
SAM and anemia may be associated with severe COVID in infants.
Topics: Anemia; COVID-19; Female; Humans; India; Infant; Male; Malnutrition; Respiratory Distress Syndrome
PubMed: 33313926
DOI: 10.1093/tropej/fmaa084 -
The Journal of Nutrition Oct 2020Homocysteine (Hcy) is methylated by methionine synthase to form methionine with methyl-cobalamin as a cofactor. The reaction demethylates 5-methyltetrahydrofolate to... (Review)
Review
Homocysteine (Hcy) is methylated by methionine synthase to form methionine with methyl-cobalamin as a cofactor. The reaction demethylates 5-methyltetrahydrofolate to tetrahydrofolate, which is required for DNA and RNA synthesis. Deficiency of either of the cobalamin (Cbl) and/or folate cofactors results in elevated Hcy and megaloblastic anemia. Elevated Hcy is a sensitive biomarker of Cbl and/or folate status and more specific than serum vitamin assays. Elevated Hcy normalizes when the correct vitamin is given. Elevated Hcy is associated with alcohol use disorder and drugs that target folate or Cbl metabolism, and is a risk factor for thrombotic vascular disease. Elevated methionine and cystathionine are associated with liver disease. Elevated Hcy, cystathionine, and cysteine, but not methionine, are common in patients with chronic renal failure. Higher cysteine predicts obesity and future weight gain. Serum S-adenosylhomocysteine (AdoHcy) is elevated in Cbl deficiency and chronic renal failure. Drugs that require methylation for catabolism may deplete liver S-adenosylmethionine and raise AdoHcy and Hcy. Deficiency of Cbl or folate or perturbations of their metabolism cause major changes in sulfur amino acids.
Topics: Alcoholism; Amino Acids, Sulfur; Anemia, Megaloblastic; Biomarkers; Cardiovascular Diseases; Folic Acid; Folic Acid Deficiency; Humans; Hyperhomocysteinemia; Kidney Failure, Chronic; Liver Diseases; Nutritional Status; Obesity; S-Adenosylhomocysteine; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 33000156
DOI: 10.1093/jn/nxaa118 -
Journal of Blood Medicine 2020Sideroblastic anemia (SA) consists of a group of inherited and acquired anemias of ineffective erythropoiesis characterized by the accumulation of ring sideroblasts in... (Review)
Review
Sideroblastic anemia (SA) consists of a group of inherited and acquired anemias of ineffective erythropoiesis characterized by the accumulation of ring sideroblasts in the bone marrow due to disrupted heme biosynthesis. Congenital sideroblastic anemia (CSA) is rare and has three modes of inheritance: X-linked (XLSA), autosomal recessive (ARCSA), and maternal. Acquired SA is more common and can be a result of myelodysplastic syndromes (MDS) or other, generally reversible causes. The diagnostic approach to SA includes a work-up for reversible causes and genetic testing for CSA based on clinical suspicion, family history and genetic pedigree. The treatment of SA depends on the underlying etiology but remains primarily supportive with vitamin B6 supplementation for select cases of XLSA, thiamine for thiamine-responsive megaloblastic anemia subtype, red blood cell transfusions for symptomatic patients and iron chelation therapy for iron overload. The management of anemia in MDS subtypes with ring sideroblasts remains unique and includes the recently approved erythroid maturation agent, Luspatercept. Although there is currently no curative therapy for CSA, anecdotal reports of hematopoietic stem cell transplant demonstrate remissions in selective, non-syndromic cases. This review summarizes the genetics, pathophysiology, diagnosis and treatment of SA for general practitioners and clinical hematologists.
PubMed: 33061728
DOI: 10.2147/JBM.S232644 -
Tzu Chi Medical Journal 2022The causes of pancytopenia vary in different populations depending on age, gender, nutrition, geographic location, standard of living, and exposure to certain infections...
OBJECTIVE
The causes of pancytopenia vary in different populations depending on age, gender, nutrition, geographic location, standard of living, and exposure to certain infections and drugs. As the severity of pancytopenia and its underlying etiology determine the management and prognosis, identifying the correct etiology in a given case is crucial and helps in implementing timely and appropriate treatment. The objectives of this study were to study the clinical profile and hematological parameters of pancytopenic adults and to identify different etiologies of pancytopenia. This observational study was conducted in the Medicine department of a tertiary care teaching hospital.
MATERIALS AND METHODS
The study was conducted on 100 adult patients aged 18-65 years presenting with pancytopenia. All the participants were subjected to detailed clinical examination and relevant investigations including bone marrow (BM) examination. Categorical variables were presented in number and percentage (%). Qualitative variables were correlated using the Chi-square test. A =0.05 was considered statistically significant.
RESULTS
A female preponderance was observed, and the majority of patients were aged between 18 and 40 years. The most common clinical features were generalized weakness, fever, and pallor. Seventy-four percent of patients were vegetarians; 58% had vitamin B12 deficiency, 25% had folic acid deficiency and 19% had a deficiency of both. The most common cause of pancytopenia was megaloblastic anemia (MA) (37%), followed by dimorphic anemia (DA) (26%), aplastic anemia (AA) (20%), and hematological malignancies (11%).
CONCLUSION
MA, DA, and AA are the most prevalent etiologies of pancytopenia. BM examination is of utmost importance in the definitive diagnosis of pancytopenia and is useful in initiating timely treatment as a significant number of causes of pancytopenia are potentially curable.
PubMed: 35233363
DOI: 10.4103/tcmj.tcmj_17_21 -
Sensors (Basel, Switzerland) May 2021Folic acid (FA) is the synthetic surrogate of the essential B vitamin folate, alternatively named folacin, pteroylglutamic acid or vitamin B. FA is an electroactive... (Review)
Review
Folic acid (FA) is the synthetic surrogate of the essential B vitamin folate, alternatively named folacin, pteroylglutamic acid or vitamin B. FA is an electroactive compound that helps our body to create and keep our cells healthy: it acts as the main character in a variety of synthetic biological reactions such as the synthesis of purines, pyrimidine (thus being indirectly implied in DNA synthesis), fixing and methylation of DNA. Therefore, physiological folate deficiency may be responsible for severe degenerative conditions, including neural tube defects in developing embryos and megaloblastic anaemia at any age. Moreover, being a water-soluble molecule, it is constantly lost and has to be reintegrated daily; for this reason, FA supplements and food fortification are, nowadays, extremely diffused and well-established practices. Consequently, accurate, reliable and precise analytical techniques are needed to exactly determine FA concentration in various media. Thus, the aim of this review is to report on research papers of the past 5 years (2016-2020) dealing with rapid and low-cost electrochemical determination of FA in food or biological fluid samples.
Topics: Biosensing Techniques; Dietary Supplements; Folic Acid; Folic Acid Deficiency; Humans; Water
PubMed: 34066085
DOI: 10.3390/s21103360