Megaloblastic Anemia Research Articles

The boon and bane of nitrous oxide.

Nitrous oxide (N2O) has been known since the end of the eighteenth century. Today, N2O plays a huge role as a greenhouse gas and an ozone-depleting stratospheric molecule. The main sources of anthropogenic N2O emissions are agriculture, fuel combustion, wastewater treatment, and various industrial processes. By contrast, the contribution of medical N2O to the greenhouse effect appears to be small. The recreational and medical uses of N2O gradually diverged over time. N2O has analgesic and anesthetic effects, making it widely used in modern dentistry and surgery. New research has also begun studying N2O's antidepressant actions. N-methyl-D-aspartate (NMDA) antagonism and opioid effects are believed to be the main underlying biochemical mechanisms. At this point, numerous questions remain open and, in particular, the conduct of larger clinical trials will be essential to confirm N2O's use as a rapid-acting antidepressant. The N2O concentration delivered, the duration of a single inhalation, as well as the number of inhalations ultimately required, deserve to be better understood. Finally, the non-medical use of N2O has gained significant attention in recent years. Sudden deaths directly attributed to N2O are primarily due to asphyxia. Heavy, chronic N2O use may result in vitamin B12 deficiency, which, among other things, may cause megaloblastic anemia, venous thrombosis, myeloneuropathy, and skin pigmentation. Helpful biochemical tests include homocysteine and methylmalonic acid. The centerpiece of treatment is complete cessation of N2O use together with parenteral administration of vitamin B12.

Importance of bone marrow examination in cases of pancytopenia: A morphological study in a tertiary care center

Background: Anemia, leukopenia, and thrombocytopenia are all combined as pancytopenia. It could be a symptom of many diseases that directly or indirectly impact the bone marrow. The cause of pancytopenia, however, differs depending on the location. An essential step in determining the cause of pancytopenia is bone marrow aspiration (BMA). Aims and Objectives: This study aimed to determine the causes of pancytopenia and the morphology of the bone marrow in pancytopenia patients. Materials and Methods: This study was carried out over a year in the pathology department of a tertiary care facility in central India. Patients taking chemotherapy or radiation therapy were excluded from the study. Inclusion Criteria: Cases with hemoglobin <10 g/dL, total leukocyte count <4000/mm3, and platelet count <100,000/mm3 were included in this study. The patient’s posterior iliac crest was used for BMA. The Leishman stain was used to color BMA smears for microscopy. Results: This study comprised 51 cases of pancytopenia, with acute leukemia and megaloblastic anemia accounting for the majority (11 cases each out of 51), followed by dimorphic anemia (10/51), hypocellular marrow (9/51). The clinical symptom of generalized weakness and pallor was present in all instances (100%) and was followed by fatiguability (72%) and dyspnea (48%). The last two least frequent symptoms, lymphadenopathy, and hepatomegaly, were also present in many patients. A significant proportion of pancytopenia individuals experienced lymphadenopathy and hepatomegaly, which were the last two least prevalent appearances. Conclusion: In most cases, bone marrow aspiration in pancytopenia patients aids in determining the underlying reason. Understanding the illness process, planning future research, and managing cytopenia patients can all benefit from it.

New Onset Pancytopenia in Adults: Clinico-etiological Profile at a Tertiary Care Hospital

Objective: To evaluate and compare common disorders leading to new onset pancytopenia among both genders.
 Methods: It was a cross-sectional study conducted at the Department of Pathology at Watim Medical College and Watim General Hospital, Rawat, from November 2020 to November 2021.A total of 98 adult patients with persistent pancytopenia for one week who gave consent for bone marrow aspiration and a trephine biopsy were selected. A blood-complete picture with peripheral smears along with bone marrow aspiration biopsy were done. Trephine needle biopsy and cytochemical staining were performed when required.
 Results: There were 44 males and 54 female patients. The mean age was 43.49 ±19 years. Common presenting complaints were pallor (82.6%), weakness (63.2%), petechial haemorrhages (45.9%) and fever (23.5%). The hemoglobin value, white blood cell count and platelet count were 6.5± 1.65 g/dl, 3.20 ±1.43 x 109/L and 55.21 ±28.01 x 109/L respectively. Major causes were megaloblastic anemia with female predominance (S.D: 0.003) in 43.8% patients, aplastic anemia with male predominance (S.D:0.001) in 17.3%, portal hypertension induced splenomegaly in 13.2%, infectious diseases in 7%, leukemias in 5.1% and Myelodysplastic syndromes in 3.1%.
 Conclusion: Megaloblastic anaemia is the major cause of pancytopenia in females and aplastic anemia in male pancytopenic patients.

A CASE REPORT OF MYELOMENIGOCELE WITH ARNOLD CHIARI MALFORMATIN II-HIGHLIGHTING THE IMPORTANCE OF ANEMIA MUKTH BHARATH PROGRAMME

Introduction:Neural tube defects are common complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which usually completes by 28 days post conception. Myelomeningocele is almost always associated with Arnold Chiari Malformation II (CM II)and vice versa. Aims &Objectives : As most of the neural tube defects can be prevented by pre-conceptional folate supplements, we would like to high light the importance of proper implementation and utilization of Anemia Mukhth Bharath Programme. Background: Neural tube defects (NTDs) are caused by a combination of multiple genes and multiple environmental factors like folic acid deficiency, insulin dependent diabetes, obesity and certain medications which interfere with folate metabolism.One of the beneficiaries under the Anemia Mukth Bharath programme are women in the reproductive age group in the pre-conception period and up to the first trimester of the pregnancy. They are advised to have400 mcg of Folic Acid tablets, daily, to reduce the incidence of neural tube defects in the fetus. Case report :We present a case of Chiari malformation associated with megaloblastic anemia with an attempt to highlight the importance of proper utilization of national program for prevention of iron and folate deficiency in women of reproductive age group. Clinical relevance : Neural tube defects are largely preventable anomalies by simple and effective management of folate deficiency preconceptionally. Conclusion :Proper utilization of the Anemia Mukth Bharath program which is available to the beneficiaries at their doorstep can not only prevent maternal anemia but also prevent fetal loss due to NTD.

Hematological disorders on bone marrow examination in a tertiary care Centre

Objective: The aims of this study were to understand the range of different blood-related disorders diagnosed through bone marrow examination and to explore the connection between the age groups and genders of our patients with the subtypes of acute leukemia. Material and Methods: This was a cross-sectional study carried over a period of one year from January 2022 to December 2022, in the department of Pathology, Pakistan Institute of Medical Sciences (PIMS), Islamabad. Analysis of bone marrow was conducted on patients referred with suspected blood-related disorders, and a total of 254 cases were incorporated into the study. We divided age into groups as 0-12 years (paediatric age group) and >12 years (adults) for comparison with subtypes of acute leukemias. Pearson chi-square test was applied. P value of <0.05 was considered statistically significant. Results: The age range was from 05 months - 91 years with male: female ratio of 1.2:1. The prevalent non-malignant conditions identified during bone marrow examination were peripheral destruction/consumption of platelets (24.8%) followed by anemias (22%) and infection- related changes (9.4%). Among hematological malignancies, acute leukemias were the most frequent (22.8%), with chronic leukemias following at 7.1%. We also observed that Acute Lymphoblastic Leukemia was more common in Paediatric age group, while Acute Myeloid Leukemia was more frequent type of acute leukemia in adults (p <0.001). Conclusion: The examination of bone marrow specimens is a key procedure for swiftly obtaining a confirmatory diagnosis for numerous hematological disorders, including hematologic malignancies. Keywords: Anemia, Bone Marrow Trephine Biopsy, Bone marrow aspiration, Leukemia, Megaloblastic anemia

Therapeutic Modifications to Correct Megaloblastic Anemia in Patients with Long Term Use of Metformin

Therapeutic Modifications to Correct Megaloblastic Anemia in Patients with Long Term Use of Metformin

MEGALOBLASTIC ANEMIA IN ADULTS WITH NEW-ONSET PANCYTOPENIA ON PERIPHERAL SMEAR

Objectives: To determine the frequency of megaloblastic anemia in patients with a new onset of pancytopenia on peripheral smear. Materials and Methods: This cross-sectional study was conducted in the Department of Medicine, Khyber Teaching Hospital, Peshawar from 1st February 2021 to 31st July 2021. A total of 109 patients participated in the study after fulfilling the inclusion criteria. Patients with pancytopenia on peripheral smear underwent bone marrow biopsy. Megaloblastic anemia as the cause of pancytopenia was confirmed after bone marrow biopsy reports were available. The results were stratified into tables based on study participants’ demographics. Data was analyzed by SPSS 23 and presented in tables. Results: Megaloblastic anemia was observed in 42.2% of patients presenting with pancytopenia on peripheral smear. 66.1% of these were male and 33.9% were female. Conclusion: A large number of patients with pancytopenia on initial investigations were diagnosed to be suffering from megaloblastic anemia in our study. Keywords: Pancytopenia; Megaloblastic anemia; Peripheral smear; Bone marrow biopsy

Retrospective evaluation of patients with vitamin B12 deficiency in the pediatrics outpatient clinic

Background/Aim: This study examines patients diagnosed with vitamin B12 deficiency in our department. Although rare, vitamin B12 deficiency is one of the causes of megaloblastic anemia, which can lead to negative outcomes in patients. We aim to promote earlier diagnosis to protect patients from these negative effects. Therefore, this study will contribute to raising awareness in the literature. Methods: Retrospectively, we included a total of 127 outpatient children, aged 0–18 years (0–215 months), who were diagnosed and treated for vitamin B12 deficiency at the Bagcilar Training and Research Hospital Child Health and Disease Clinic between October 2014 and February 2015. Results: Among the patients, 67 (53%) with vitamin B12 deficiency were female, while 60 (47%) were male, indicating a higher occurrence in girls. Vitamin B12 deficiency was most commonly observed in the age groups of 0-2 years and 12-17 years (adolescents). The mean vitamin B12 level was 168.1 (34.1) pg/mL, the mean hemoglobin level was 12 (1.9) g/dL, and the mean MCV (mean corpuscular volume) was 78.4 (8.1) fl. Anemia was observed in 38% of the patients, bicytopenia in 4%, neutropenia in 6%, thrombocytopenia in 9%, pancytopenia in 3%, and macrocytosis in 2%. Non-iron-deficient patients showed no difference in mean hemoglobin and RDW (red cell distribution width) when compared to iron-deficient patients. However, their B12 levels were lower. The prevalence of iron deficiency did not differ between girls and boys. Comparing patients with vitamin B12 levels lower than 150 pg/mL to those with higher levels, there were no significant differences in average Hb, MCV, and RDW. Conclusion: It should be noted that macrocytic anemia is not exclusive to vitamin B12 deficiency. Vitamin B12 deficiency can manifest as normocytic anemia and should not be overlooked in biochemical assessments. It is recommended to conduct nationwide and regional prevalence studies to evaluate vitamin B12 deficiency as a public health issue and to develop new solutions accordingly.

Severe megaloblastic anemia in a patient with advanced lung adenocarcinoma during treatment with erlotinib: a case report and literature review

BackgroundErlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC. Erlotinib is considered as a safe and effective treatment option, with generally good tolerance. Diarrhea and rash are the most common side effects, and more rare side effects appear in long-term real-world applications. Severe erlotinib related megaloblastic anemia is rare and remains unreported. This is the first case report of severe megaloblastic anemia in a patient with advanced lung adenocarcinoma with an EGFR L858R mutation treated with erlotinib. In this report, the clinical manifestations, diagnosis and treatment of erlotinib related severe megaloblastic anemia are described, and the possible pathogenesis and related treatment options are discussed.Case descriptionHerein, we present a 57- year-old non-smoking female diagnosed with metastatic lung adenocarcinoma harboring an EGFR L858R mutation, who had received erlotinib as the first-line therapy. After 44 weeks of treatment, the patient developed severe anemia. Anemia was manifested as megaloblastic anemia with elevated mean corpuscular volume and mean corpuscular hemoglobin. The total vitamin B12 level was below the detection limit of 50.00 pg /mL. Bone marrow smear suggested megaloblastic anemia. Her hematologic parameters were markedly recovered following the withdrawal of erlotinib and vitamin B12 supplement. As a result, the patient was diagnosed with erlotinib-associated megaloblastic anemia.ConclusionsThis is the first case of severe megaloblastic anemia reported with erlotinib. Few of these hematologic adverse effects have been observed in studies on erlotinib, this case report highlights this possibility for long-term erlotinib administration. Close clinical and blood monitoring is recommended for patients receiving long-term TKI therapy.

Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.

Although proteinuria is long recognized as an independent risk factor for progressive chronic kidney diseases, not all forms of proteinuria are detrimental to kidney function, one of which is isolated proteinuria caused by cubilin (CUBN)-specific mutations. CUBN encodes an endocytic receptor, initially found to be responsible for the Imerslund-Gräsbeck syndrome (IGS; OMIM #261100) characterized by a combined phenotype of megaloblastic anemia and proteinuria. After analyzing their clinical and pathological characterizations, next-generation sequencing for renal disease genes or whole-exome sequencing (WES) was performed on four patients with non-progressive isolated proteinuria. CUBN biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing, immunohistochemistry, minigene assay, and multiple in silico prediction tools, including 3D protein modeling. Here, we present four patients with isolated proteinuria caused by CUBN C-terminal biallelic pathogenic variants, all of which showed no typical IGS symptoms, such as anemia and vitamin B12 deficiency. Their urine protein levels fluctuated between +~++ and estimated glomerular filtration rate (eGFR) were normal or slightly higher. Mild mesangial hypercellularity was found in three children's renal biopsies. A homozygous splice-site variant of CUBN (c.6821+3 (IVS44) A>G) was proven to result in the exon 44 skipping and premature translation termination by cDNA sequencing and immunohistochemistry. Compound heterozygous mutations were identified among the other three children, including another novel splice-site variant (c.10764+1 (IVS66) G>A) causing the retention of first 4 nucleotides in intron 66 by minigene assay, two unreported missense mutations (c.4907G>A (p.R1636Q); c. 9095 A>G (p.Y3032C)), and two reported missense mutations in China (c.8938G>A (p.D2980N); c. 9287T>C (p.L3096P)), locating behind the vitamin B12-binding domain, affecting CUB11, CUB16, CUB22, CUB23, and CUB27 domains, respectively. These results demonstrate that above CUBN mutations may cause non-progressive and isolated proteinuria, expanding the variant spectrum of CUBN and benefiting our understanding of proteinuria and renal function.

A review on vitamin B12 deficiency induced by metformin

Multiple studies have established a higher prevalence of vitamin B12 deficiency in patients who have type 2 diabetes mellitus (T2DM). Metformin is prescribed as the 1st line oral glucose-lowering medication for individuals with T2DM. However, metformin therapy has been linked to vitamin B12 malabsorption, which can result in both biochemical and clinical manifestations of vitamin B12 deficiency. The long-term use of metformin is associated with a significant decrease in vitamin B12 levels, particularly in doses greater than 2000 mg per day over a period of 4 years. Vitamin B12 is a water-soluble vitamin. It acts as a cofactor for enzymes involved in DNA synthesis and neuroprotection at the cellular level. Hence, vitamin B12 deficiency can lead to various clinical consequences, including hematologic abnormalities such as megaloblastic anemia and hypersegmented neutrophil formation, peripheral neuropathy, and progressive axonal demyelination, hyperhomocysteinemia (HHcy). The latest "standards of medical care in diabetes-2017" issued by the American diabetes association recommends periodic assessment of B12 status and, if necessary, the use of B12 replacement therapy in diabetic patients taking metformin. In order to address the vitamin B12 deficiency associated with metformin several therapies are available including prophylactic supplements of calcium and vitamin B12, discontinuation of metformin, and replenishment of vitamin B12 stores through intramuscular or oral therapy. It is important to regularly monitor vitamin B12 levels for at least annually to prevent complications of vitamin B12 deficiency and continue with supplementation if metformin is still being used.

Evaluation of the Vitamin B12 Deficiency in Megaloblastic Anemia in Tertiary Care Hospital, Lahore.

Background: Megaloblastic anemia is a hematologic disorder characterized by the presence of large, immature red blood cells due to a deficiency in vitamin B12 or folate. It remains a significant public health issue globally, affecting various populations across different age groups and dietary habits. Objective: The objective of this study was to evaluate the prevalence and implications of vitamin B12 deficiency in the development of megaloblastic anemia in a tertiary care hospital in Lahore. Methods: A cross-sectional analysis was conducted on 85 patients over a period of four months. Ethical approval was secured in line with the Declaration of Helsinki. Participants included both genders with hemoglobin levels <10 g/dl or mean corpuscular volume >95 fL, excluding pregnant women and individuals with primary diseases such as hepatic, renal, or cancerous conditions. Verbal consent was obtained before blood sample collection. CBC parameters were analyzed using a Mindray hematology analyzer, and vitamin B12 levels were measured via ELISA. Statistical evaluation was performed using SPSS version 25.0. Results: The mean hemoglobin levels for males and females were 10.06 ± 3.10 g/dl and 9.61 ± 3.25 g/dl, respectively. The mean MCV for males was 99.94 ± 6.63 fL, and for females, it was 100.25 ± 7.90 fL. Vitamin B12 levels averaged at 489.92 ± 468.10 pg/ml for males and 440.19 ± 419.47 pg/ml for females. Of the patients, 47.05% had normal B12 levels, 25.88% were deficient, and 27.05% had high levels of B12. Conclusion: Vitamin B12 deficiency was prevalent among patients with megaloblastic anemia and was independent of gender or age. The findings suggest a strong need for enhanced nutritional awareness and screening practices to identify and treat this deficiency early in at-risk populations.

Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis.

Folate, an essential vitamin, is a one-carbon acceptor and donor in key metabolic reactions. Erythroid cells harbor a unique sensitivity to folate deprivation, as revealed by the primary pathological manifestation of nutritional folate deprivation: megaloblastic anemia. To study this metabolic sensitivity, we applied mild folate depletion to human and mouse erythroid cell lines and primary murine erythroid progenitors. We show that folate depletion induces early blockade of purine synthesis and accumulation of the purine synthesis intermediate and signaling molecule, 5'-phosphoribosyl-5-aminoimidazole-4-carboxamide (AICAR), followed by enhanced heme metabolism, hemoglobin synthesis, and erythroid differentiation. This is phenocopied by inhibition of folate metabolism using the inhibitor SHIN1, and by AICAR supplementation. Mechanistically, the metabolically driven differentiation is independent of mechanistic target of rapamycin complex 1 (mTORC1) and adenosine 5'-monophosphate-activated protein kinase (AMPK) and is instead mediated by protein kinase C. Our findings suggest that folate deprivation-induced premature differentiation of erythroid progenitor cells is a molecular etiology to folate deficiency-induced anemia.

Hematological Indices for Identifying Adverse Outcomes in Children Admitted to Pediatric ICUs.

The pediatric ICU (PICU) is a specialized area where critically sick children are managed. The mortality rates in PICUs are higher in developing countries as compared to developed nations.Many of these deaths could be prevented if very sick children were identified soon after they arrived at the health facility. Hematological indices like platelet lymphocyte ratio (PLR) and neutrophil-lymphocyte ratio (NLR) have been frequently used in adults as indicators of mortality. However, their use in the pediatric population is limited due to a lack of validated reference intervals. The objective of the study is to assess the role of hematological indices in identifying adverse outcomes in terms of mortality in children admitted to the PICU. It is a prospective, observational study done at a tertiary care hospital. All children aged one year to 12 years admitted to the PICU were enrolled in the study. A sample for complete blood count was taken within one hour of admission to the PICU. Children who had received blood products in the last two months, those on chronic medications (>two weeks) that can affect bone marrow cellularity, and known cases ofhematological disorders such as megaloblastic anemia, hematological malignancies, immune thrombocytopenia, and aplastic anemia were excluded from the study.PLR, NLR, and platelets to mean platelet volume ratio (PLT/MPV) were determined and compared among the survivors and non-survivors. Out of 275 enrolled patients, 119 (43.3%) patients expired during the study period. While PLR had high sensitivity and NLR had high specificity (85.71% and 92.31%, respectively) for predicting mortality, none of these parameters had a good area under the curve (AUC) in our study.PLT/MPV of ≥32 had a sensitivity of 39.5% and a specificity of 56.41%for predicting mortality. Hematological parameters have been used across the world to predict ICU mortality. PLR and NLR are simple hematological biomarkers, easy to calculate, and cost-effective, and ratios are better than individual parameters. More studies and stratified samples are required to evaluate the role of hematological markers in identifying the risk of mortality in children admitted to PICUs.

Clinical and etiopathological profile of pancytopenia in children (1-18 years): A study from tertiary care center of Bundelkhand region, central India

Background: Pancytopenia is defined by a decrease in all three blood components, that is, leukopenia, thrombocytopenia, and anemia below the normal range. This study is an attempt to fill the lacunae regarding the information about pancytopenia in pediatric patients in the Bundelkhand region. The study aimed to study the clinical and etiopathological profile of pancytopenia in children (1–18 years) in the tertiary care center of the Bundelkhand region in central India. Materials and Methods: The present study was a hospital-based cross-sectional observational study conducted to learn about the clinical features, demographic and etiopathological profile of pancytopenia in children. The study was performed with 65 patients aged 1–18 years from September 2021 to August 2022 admitted to the Department of Paediatrics, Maharani Laxmi Bai Medical College and Hospital, Jhansi, and fulfilling inclusion criteria. IBM’s Statistical Package for the Social Sciences version 23 was used for the statistical study. Results: Out of 65 patients, a maximum number of cases were in the age group of 1–6 years (55%). Our study revealed male predominance over females with male-to-female ratio of 2.09:1, mostly belonging to rural areas. The most common presenting complaint was easy fatigue in (90%) of patients followed by fever (54%). The most common physical finding was pallor (100%), followed by splenomegaly and pedal edema (38%) and (18%), respectively. Bone marrow cellularity shows hypocellular marrow (62%), hypercellular (31%), and normocellular (7%). Peripheral smears of most of the patients showed normocytic normochromic (34%), followed by macrocytic hypochromic (30%). Regarding etiology megaloblastic anemia (30%) was reported as the most common cause of pancytopenia followed by malignancies (30%) including myelodysplastic syndrome (9%), multiple myeloma (3%), acute lymphocytic leukemia (9%), and acute myeloid leukemia (9%) followed by aplastic anemia (14%) and sepsis (8%). The study also shows other rare causes of pancytopenia such as disseminated tuberculosis (6%), malaria (9%), and dengue (3%). Conclusion: In the present study, the most common etiologies of pancytopenia come out as nutritional causes, that is, megaloblastic anemia followed by malignancies then aplastic anemia.

SPECTRUM OF HEMATOLOGICAL DISORDERS IN BONE MARROW EXAMINATION

Objective: To study the bone marrow aspiration (BMA) trends and to observe and analyze the various patterns of hematological disorders in bone marrow examinations of patients attending a tertiary care teaching hospital. Methods: A 2-year study was done retrospectively in the department of pathology at the tertiary care teaching hospital. Relevant demographics, clinical details, intraprocedural details, and results were obtained through records and case files. Results: A total of 48 cases were studied. The most common diagnoses recorded were erythroid hyperplasia, nutritional anemia, megaloblastic anemia, acute leukemias, etc. Conclusion: Bone marrow cytology is a highly informative and diagnostic test procedure performed in evaluating blood and blood-related diseases. Some hematological conditions can be diagnosed with serological studies, and the need for an invasive test like BMA can be avoided.

Evaluation of Pancytopenia in Adults

Introduction: Pancytopenia, simultaneous presence of anemia, leucopenia and thrombocytopenia, is a commonclinical entity that we see in day to day practice Proper diagnostic evaluation requires detailed clinical history,physical examination and haematological assessment including careful peripheral blood smear examination andbone marrow evaluation.Materials and Methods: A total of 80 adult patients with pancytopenia/bicytopenia presenting between January2021 to January 2022 were included in the study. All patients underwent detailed clinical history and physicalexamination. Careful peripheral blood smear examination, CBC and bone marrow aspirate was done in all. Bonemarrow biopsy was done wherever feasible.Results: Megaloblastic anemia was the commonest cause of pancytopenia/bicytopenia making up 37.5% of allcases followed by erythroid hyperplasia (20%), aplastic anemia (10%). Haematological malignancies accounted for23.75% cases of the total. Bone marrow biopsy aided in the diagnosis of 8 cases (6 cases of aplastic anemia and twocases of dry tap) while in others it was concordant with aspiration findings.Conclusion: Bone marrow aspiration and biopsy are an important adjunct to peripheral smear examination forevaluation of cytopenias. Bone marrow trephine biopsy is helpful in cases of dry tap. We also conclude that thereis high prevalence of megaloblastic anemia due to nutritional deficiency among young population. Hence, this agerange should be the prime target for education regarding proper dietary habits, the remediation of which mightreduce the clinical burden of megaloblastic anemia.

Arsenic intoxication causing Megaloblastic Anaemia- lesson learnt

Megaloblastic anaemia is a common hematological abnormality encountered in clinical practice. We here report a case of 40-year-old male who presented to us with feature of anaemia and typical dermatological manifestation of arsenic intoxication. Complete blood count of patient showed pancytopenia with no circulating atypical cells. Bone marrow examination performed and showed megaloblastic change. Arsenic level in the hair was done and came out very high a. A very few case reports of arsenic causing megablastic anaemia were done in past. Aim of this case report is to create awareness among the physician. J MEDICINE 2024; 25: 90-93

Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

BackgroundThe methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR gene variation analysis.Case presentationHerein, we report the case of a 2.1-month-old Chinese girl with the cblG disorder with poor feeding, failure to thrive, and pancytopenia, esotropia, ocular nystagmus, and hypotonia. However, in order to determine the possible genetic cause of the disease, whole-exome sequencing was adopted and detected compound-heterozygous mutations in MTR gene. One was splicing site mutation c.1812 + 3A > G and the other was missense mutation c.2405G > A (p.A802G), which were likely disease-causing mutations (DM). Variant c.1812 + 3A > G has not been reported before in the literature.ConclusionOur data elucidated the genetic etiology of the patient and enriched the known spectrum of mutations in the MTR gene worldwide, offering exhaustive and invaluable insights for early diagnosis and appropriate medication of the cblG disorder.

Analysis of cognitive dysfunction and its influencing factors in patients with megaloblastic anemia

Analysis of cognitive dysfunction and its influencing factors in patients with megaloblastic anemia