Macrocytic anemia

BACKGROUND: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations. CASES PRESENTATION: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months...

Diabetes mellitus (DM) is the most common metabolic disease worldwide. Hence, the prevalence of the disease continues to increase across the globe. Metformin is used as a first-line oral hypoglycemic drug to keep control of type-2 DM (T2DM) in adults. Diabetic patients on metformin have been largely seen to be suffering from a deficiency of vitamin B12. It is a water-soluble vitamin mainly obtained from animal food like meat. At the basic cell level, it acts as a cofactor for enzymes essential for DNA synthesis and neuroprotection...

Red blood cells (RBCs) start to break down early in hemolytic anemia, which can be chronic or life-threatening. It should be considered while determining if normocytic or macrocytic anemia is present. Hemolysis in the reticuloendothelial system may happen intravascularly, extravascularly, or both. It accounts for a broad spectrum of laboratory and clinical situations, both physiological and pathological. Whenever the frequency of RBC breakdown is rapid enough to lower hemoglobin levels below the normal range, hemolytic anemia occurs...

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an autosomal dominant inheritance and is commonly diagnosed in the first year of life, requiring continuous treatment. We present the case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a congenital syndrome had been suspected since birth, a confirmation diagnosis was not made until the patient was referred to our center for an evaluation of her anemia...

We present a case of a 48-year-old woman with a fortuitous discovery of macrocytic anemia and thrombocytopenia. Serum folate and vitamin B12 levels were normal. However, due to the presence of indirect signs of cobalamin deficiency, such as elevated homocysteine and methylmalonic acid, and signs of dyserythropoiesis on the bone marrow aspirate, pernicious anemia was suspected. Vitamin B12 dosage was repeated finding fluctuating but always normal results. Anti-intrinsic factor antibodies were present at a very high level, explaining the fluctuations and the interference found on the assay using competitive binding chemiluminescence (CBLA)...

Almost 56% of Indian adolescent girls aged 15-19 years suffer from anemia. Adolescent age is a period of many significant physiological changes that increase nutritional demand, and they remain at risk for nutritional deficiencies. Our aim is to assess the prevalence of Vitamin B12 deficiency among school-going adolescent girls aged 13-16 years of rural Mysore. This study was a cross-sectional study, conducted in two high schools in rural Mysuru. Adolescent girls aged 13-16 years were included. The chosen subjects underwent complete hemogram, peripheral smear examination, and vitamin B12 level estimation...

BACKGROUND: Cystic fibrosis is a chronic and progressive genetic disease with a worldwide prevalence. As the disease progresses, symptoms develop, and make its management more challenging. Accumulating evidence suggests that early diagnosis of CF can significantly contribute to preventing reported nutritional problems including anemia, vitamin deficiencies, and hypoalbuminemia. This cross-sectional study was conducted to assess disease severity in cystic fibrosis patients using the Shwachman-Kulczycki score, as well as to determine its relation with anemia and vitamin D deficiency...

The cytokine-inducible SH2 domain-containing (CISH) protein was the first member of the suppressor of cytokine signaling (SOCS) family of negative feedback regulators discovered, being identified in vitro as an inducible inhibitor of erythropoietin (EPO) signaling. However, understanding of the physiological role played by CISH in erythropoiesis has remained limited. To directly assess the function of CISH in this context, mice deficient in CISH were characterized with respect to developmental, steady-state, and EPO-induced erythropoiesis...

The photoacoustic effect is an attractive tool for diagnosis in several biomedical applications. Analyzing photoacoustic signals, however, is challenging to provide qualitative results in an automated way. In this work, we introduce a dynamic modeling scheme of photoacoustic sensor data to classify blood samples according to their physiological status. Thirty-five whole human blood samples were studied with a state-space model estimated by a subspace method. Furthermore, the samples are classified using the model parameters and the linear discriminant analysis algorithm...

BACKGROUND: Vitamin B12, or cobalamin (Cbl), undergoes a complex series of absorptive and intracellular processing steps before serving as a cofactor for the enzymes methylmalonyl-CoA mutase and methionine synthase. Disorders of intracellular cobalamin metabolism have variable phenotypes and age of onset related to the location of the defect in the metabolic pathway leading to a combined methylmalonic acidemia and homocystinuria (cblC, cblD, cblF and cblJ), Isolated methylmalonic acidemia (cblA, cblB and cblDv2) and isolated homocystinuria (cblDv1, cblE and cblG)...

Iron overload (IOL) is hypothesized to contribute to dysplastic erythropoiesis. Several conditions, including myelodysplastic syndrome, thalassemia and sickle cell anemia, are characterized by ineffective erythropoiesis and IOL. Iron is pro-oxidant and may participate in the pathophysiology of these conditions by increasing genomic instability and altering the microenvironment. There is, however, lack of in vivo evidence demonstrating a role of IOL and oxidative damage in dysplastic erythropoiesis. NRF2 transcription factor is the master regulator of antioxidant defenses, playing a crucial role in the cellular response to IOL in the liver...

BACKGROUND: Vitamin B12, or cobalamin deficiency, an infrequent clinical entity in pediatric age, is found almost solely in breastfed infants whose mothers are purely vegetarian, non-supplemented or with pernicious anemia. Megaloblastic anemia in infants presents with generalized weakness or irritability. METHODS: Diagnosis is usually centered on complete blood count, vitamin dosing, and peripheral smear, which may show macrocytes, hypersegmented neutrophils, reticulocytopenia and a raised mean corpuscular volume (MCV ˃ 100 fL)...

Isolated thrombocytopenia in adults is a common clinical problem, often caused by various hematological disorders. However, vitamin B12 deficiency as a rare cause of isolated thrombocytopenia has been rarely reported in the medical literature. This case report aims to highlight the diagnostic challenges associated with atypical presentations of thrombocytopenia and emphasizes the importance of considering nutritional deficiencies, such as vitamin B12 deficiency, in the diagnostic workup. We report the case of a 38-year-old male who presented with generalized weakness, fatigue, and a history of bruises without trauma...

Vitamin B12 (cobalamin) deficiency is a commonly seen nutritional deficiency that presents with a broad spectrum of clinical symptoms. In this report, we describe a case of a 49-year-old female patient who presented to the emergency department with sudden onset of a syncopal-like episode, generalized weakness, and severe pancytopenia, who was subsequently diagnosed with vitamin B12 deficiency upon admission. The patient underwent a thorough evaluation to exclude alternative etiologies for her presentation. Her clinical symptoms and blood count significantly improved after six days of treatment with vitamin B12 supplementation...

While macrocytic anemia is common in vitamin B12 deficiency, rarely, pancytopenia and hemolytic anemia can occur. Homocysteine levels are elevated in severe B12 deficiency, and this is linked to thrombus formation with potentially life-threatening complications. We present a patient with severe vitamin B12 deficiency complicated by hyperhomocysteinemia and obstructive shock from pulmonary embolism. A 56-year-old male with no medical history presented to the hospital with altered mentation. The patient's family stated he was experiencing bilateral paresthesias of his lower extremities, progressive depression, anxiety, and insomnia...

INTRODUCTION: pernicious anemia is an autoimmune disease characterized by atrophic gastritis due to malabsorption of vitamin B12. Certain oral manifestations, such as Hunter´s glossitis and burning mouth syndrome, may precede the onset of this anemia. The aim of this study is to describe the clinical presentation, para-clinical aspects, the treatment, and the evolution of the pernicious anemia (PA) after treatment. METHODS: retrospective study conducted at the Department of Haematology and Internal Medicine B of the Mohammed V Military Training Hospital in Rabat between January 2009 and December 2018...

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...

INTRODUCTION: We sought to quantify percentages of microcytes and macrocytes in archived automated hematology analyzer (AHA) red blood cell (RBC) volume histogram images. METHODS: In preliminary studies, we demonstrated that an on-line application of Gauss' area formula (SketchAndCalc™) measured percentage areas of 20 segments under a computer-generated normal distribution curve (-3.0 standard deviations [SD] to +3.0 SD) with accuracy and precision (Pearson's correlation of measured areas with corresponding theoretical areas r [20] = 0...

INTRODUCTION: Transient abnormal myelopoiesis (TAM) is a transient, clonal myeloproliferative disorder unique to Down Syndrome (DS) babies. It is characterized by increased peripheral blasts and presence of GATA1 mutation. The clinical spectrum ranges from jaundice and hepatosplenomegaly to multi-organ failure and death. Here we present a case of a premature baby with DS diagnosed to have TAM with extramedullary involvement at birth who had a fatal outcome. CASE REPORT: A 30...

 A 62-year-old male patient presented with malaise and severe macrocytic anemia. Computed tomography revealed an osteolytic lesion in the left iliac bone. Bone marrow examination revealed that 90% of erythroblasts were large with periodic acid-Schiff (PAS)-positive staining while flow cytometry and immunostaining revealed CD71 (+), GP-A (+), p53 (+), CD117 (+), and CD34 (-) results, indicating pure erythroid leukemia (PEL) diagnosis. A needle biopsy of the osteolytic lesion revealed the same characteristics as PEL...