Biermer's disease unveiled: Bilateral macular hemorrhage as a rare manifestation-A case report.

The patient, a 30-year-old woman, presented with a sudden, painless, and severe decrease in vision in both eyes. The ophthalmological examination revealed a normal anterior segment and intraocular pressure, but a fundus examination showed bilateral macular hemorrhage. In the absence of a known history, a metabolic and hematological biological assessment was conducted. The assessment revealed megaloblastic anemia with a significantly reduced serum vitamin B12 level. Further examination confirmed Biermer's disease as the cause of her anemia. The patient was started on a regimen of monthly vitamin B12 supplementation, which she will continue for life. This case report highlights the importance of recognizing megaloblastic anemia as a potential cause of spontaneous bilateral retinal hemorrhages. Moreover, it underscores the urgency for healthcare practitioners to promptly investigate and determine the root cause of megaloblastic anemia.

Etiological spectrum of pancytopenia in adults based on hematological parameters and bone marrow studies.

BACKGROUND: This study aimed to investigate the demographic, clinical, and diagnostic aspects of adult pancytopenia while exploring its etiological spectrum through hematological parameters and bone marrow studies. RESEARCH DESIGN AND METHODS: This observational study involved 117 adult individuals ranging from 13 to 85 years who presented with pancytopenia. A comprehensive examination of demographic features, hematological parameters, clinical presentations, and physical findings, including liver and spleen characteristics, was conducted. Additionally, serological analyses for HBsAg and Anti HCV were performed. The diagnostic spectrum was determined through bone marrow studies. RESULTS: Pancytopenia manifested with varied clinical symptoms, with generalized weakness (72.65%), fever (64.1%), dyspnea (54.70%), bleeding (34.2%), and weight loss (25.6%) being prominent. Physical examination revealed a range of liver and spleen characteristics, with hepatomegaly observed in 32.48% and splenomegaly in 44.4% of cases. Serological findings indicated HBsAg positivity in 8.5% and Anti HCV positivity in 21.37% of cases. The diagnostic distribution encompassed diverse conditions, with aplastic anemia (17.1%), megaloblastic anemia (12.8%), and myelodysplastic syndromes (12.8%) being prevalent. CONCLUSIONS: This study provides a comprehensive overview of the demographic, clinical, and diagnostic aspects of pancytopenia. The observed prevalence of different diagnoses underscores the necessity of a thorough evaluation, including bone marrow studies, for accurate diagnosis and appropriate management.

Clinical characteristics of megaloblastic anemia with pancytopenia.

OBJECTIVES: In this study, we aimed to explore the clinical characteristics of patients with megaloblastic anemia and pancytopenia. METHODS: Data on patient characteristics, laboratory examinations, clinical manifestations, and associated diseases were collected from Changzhou Hospital of Traditional Chinese Medicine. The participants were divided into two groups according to routine blood test results: megaloblastic anemia patients with pancytopenia (Group A) and megaloblastic anemia patients with simple anemia (Group B). RESULTS: The number of patients with fever and bleeding in Group A was much higher than that in Group B. Inpatient days and hospitalization costs in Group A were higher than those in Group B. White blood cell count, red blood cell count, haemoglobin level, and platelet count in Group A were lower than those in Group B. There were no significant differences in mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), and serum levels of lactate dehydrogenase (LDH), total bilirubin (TBIL), direct bilirubin (DBIL), indirect bilirubin (IBIL), albumin (ALB), vitamin B12, folic acid, and ferritin between the two groups. The incidence of associated diseases, particularly pulmonary infections, was significantly higher in Group A than in Group B. There was no significant difference in the degree of bone marrow hyperplasia between the two groups. CONCLUSION: Patients with pancytopenia and megaloblastic anemia often developed infection and bleeding, which caused more severe anemia, higher hospitalization costs, and longer inpatient days. Early diagnosis and active treatment are required to reduce patient complications and costs.

Development of Myelodysplastic Syndrome in a Patient With Pernicious Anemia During the Course of Replacement Treatment.

Megaloblastic anemia (MBA) is a reversible metabolic disorder that responds well to vitamin B12 supplementation. It contrasts with myelodysplastic syndrome (MDS), an irreversible neoplastic condition characterized by hematopoietic stem cell abnormalities. To date, no association has been identified between these two distinct etiologies, and they are considered independent diseases. However, despite their distinct classifications, both conditions present macrocytic anemia, similar bone marrow findings, and sometimes have common chromosomal abnormalities, which can lead to occasional misdiagnoses. Herein, we present a patient initially diagnosed with pernicious anemia (PA) who showed improvement with replacement therapy but subsequently became resistant to treatment and eventually developed MDS. Quantitative assessment of Wilm's tumor-1 (WT1) mRNA has emerged as a valuable tool for gauging MDS disease status and distinguishing it from related disorders, such as aplastic anemia. In our investigation of 30 patients with MBA, we explored WT1 mRNA expression. We observed its presence in 10 patients with PA, which suggests a potential link between PA and hematopoietic tumors.

Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

BACKGROUND: Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. CASE REPORT: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin. CONCLUSION: In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.

A Case Report and Literature Review on Dietary Practices and Megaloblastic Anemia in a Young Female: Unraveling the Impact of Nutrition on Hematological Health.

Megaloblastic anemia, stemming from vitamin B12 or folate deficiencies, poses diagnostic challenges due to its diverse clinical presentation. We report a case of a 25-year-old female college student presenting with symptoms indicative of megaloblastic anemia, attributed to her recent adoption of a strict vegetarian and vegan diet. Clinical manifestations included dizziness, palpitations, blurred vision, vertigo, headaches, burning sensations, excessive sweating, mouth ulcers, and unintentional weight loss. Physical examination revealed pale palpebral conjunctiva and sweating on the palms and soles. Laboratory findings confirmed megaloblastic anemia secondary to vitamin B12 deficiency, with elevated mean corpuscular volume (MCV), reticulocyte count, serum methylmalonic acid (MMA), and homocysteine levels. Treatment with intramuscular cyanocobalamin injections and oral vitamin B12 supplementation led to symptomatic improvement and normalization of hematological parameters. This case underscores the crucial role of dietary habits in hematological health. Vegetarian and vegan diets, devoid of animal products rich in vitamin B12, increase the risk of deficiency. Early recognition and management of such deficiencies are imperative to prevent long-term complications. A literature review corroborates the association between vegetarianism/veganism and megaloblastic anemia risk. Healthcare providers should vigilantly assess dietary histories, particularly in patients with hematological abnormalities. Further research is warranted to explore strategies for optimizing nutrient intake in individuals adhering to vegetarian or vegan diets, aiming to mitigate the risk of nutritional deficiencies and associated complications.

A Case Report Highlighting the Significance of COVID-19 Unveiling Megaloblastic Anemia and Worsening Dementia in the Elderly.

The COVID-19 pandemic has resulted in substantial lifestyle changes with significant implications for nutritional health. Factors such as movement restrictions and disruptions in food supply chains led to the restricted availability of primary sources of essential micronutrients. To highlight this, we present the case of an elderly woman with an underlying subclinical cobalamin deficiency who developed symptomatic megaloblastic anemia, requiring hospital admission under lockdown conditions. This exemplifies how changes in diet during the COVID-19 lockdown have hastened the onset of B12 deficiency symptoms. Adverse outcomes can be avoided by identifying people at high risk of poor nutritional status and implementing policy initiatives that enhance their nutritional condition. This case report showed how important the B12 shortage was during the COVID-19 lockdown, especially for older people. They are more likely to be malnourished during COVID-19 for several reasons.

Excess Folic Acid and Vitamin B12 Deficiency: Clinical Implications?

BACKGROUND: In the 1940s to 1950s, high-dose folic acid supplements (>5 mg/d) were used clinically to reverse the megaloblastic anemia of vitamin B12 deficiency caused by pernicious anemia. However, this treatment strategy masked the underlying B12 deficiency and possibly exacerbated its neuropathological progression. The issue of masking and exacerbating B12 deficiency has recently been rekindled with the institution of folic acid fortification and the wide-spread use of folic acid supplements. OBJECTIVES: The objectives of this review are to describe clinical and epidemiological evidence that excess folic acid exacerbates B12 deficiency, to summarize a hypothesis to explain this phenomenon, and to provide guidance for clinicians. RESULTS: Cognitive function test scores are lower and blood homocysteine and methylmalonic acid concentrations are higher in people with low B12 and elevated folate than in those with low B12 and nonelevated folate. High-dose folic acid supplementation in patients with pernicious anemia or epilepsy cause significant reductions in serum B12. It is hypothesized that high-dose folic acid supplements cause depletion of serum holotranscobalamin and thus exacerbate B12 deficiency. CONCLUSION: The evidence for excess folic acid exacerbating B12 deficiency is primarily correlative or from uncontrolled clinical observations, and the hypothesis to explain the phenomenon has not yet been tested. Nonetheless, the evidence is sufficiently compelling to warrant increased vigilance for identifying B12 deficiency in at risk individuals, including older adults and others with low B12 intake or conditions that are associated with B12 malabsorption, who also ingest excessive folic acid or are prescribed folic acid in high doses.

Plain language titleExcess Folic Acid and Vitamin B12 Deficiency: Clinical Implications?Plain language summaryIt has been known for many decades that high doses of the B vitamin supplement, folic acid, can alleviate the anemia of vitamin B12 deficiency, at least temporarily. However, by alleviating the anemia, such folic acid supplements were said to "mask" the underlying vitamin B12 deficiency, thus allowing neurological damage to continue or possibly be exacerbated. Consequently, treating vitamin B12 deficiency with high dose folic acid was discontinued in the 1970s. The issue of whether folic acid supplements can exacerbate vitamin B12 deficiency reemerged in the 1990s with folic acid fortification of cereals and grains in the United States and Canada (and now in over 80 countries around the world) to prevent spina bifida and other birth defects. This narrative review summarizes the results of studies that have assessed the relationships between folic acid and folate and vitamin B12 status in patients and in populations. A recent hypothesis on how folic acid might exacerbate vitamin B12 deficiency is summarized, and recommendations to clinicians are made for increased vigilance in assessing vitamin B12 status in certain groups at risk of vitamin B12 deficiency, including older adults, people with gastrointestinal issues and other factors that cause vitamin B12 malabsorption, people with unexplained neurological problems, and people who follow vegan or vegetarian diets which are naturally low in vitamin B12.

A Cross-Sectional Study for the Spectrum of Clinical Diagnosis in Patients Presenting With Macrocytosis.

Objective The objectives of this study were to determine the frequency of the clinical spectrum of diseases in patients with macrocytosis and to summarize the diagnostic evaluation of patients found to have macrocytosis on laboratory testing. Background This was a cross-sectional study that took place at the Department of Medicine in Combined Military Hospital, Rawalpindi, Pakistan, from January to June 2023. Methodology One hundred and five patients with macrocytosis with mean corpuscular volume (MCV) values > 100 fL (80 to 100 fL) were inducted as per inclusion and exclusion criteria. Informed consent was obtained from all patients. Complete blood counts (CBC), peripheral blood film, serum vitamin B12 levels, serum folate levels, renal function tests (RFTs), liver function tests (LFTs), and thyroid function tests (TFTs) were performed during the assessment. Results The commonest cause of macrocytosis was vitamin B12 deficiency followed by folate deficiency, combined vitamin B12 and folate deficiency, and other causes were also found in a few cases. Conclusion Serum vitamin B12 and folate deficiency are the most common preventable causes of macrocytosis.

New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency.

OBJECTIVES: Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents in early infancy with a failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical, biochemical, and molecular findings, as well as long-term outcomes, were collected. CASE PRESENTATION: Mutation analysis revealed one unreported pathogenic variant in the TCN2 gene. One patient had exocrine pancreatic insufficiency. We conducted a retrospective analysis of C3 and C3/C2 from dried blood samples, as this is implemented for newborn screening (NBS). We detected a marked increase in the C3/C2 ratio in two samples. Treatment was based on parenteral Cbl. Three patients treated before six months of age had an initial favorable outcome, whereas the two treated later or inadequately had neurological impairment. CONCLUSIONS: This is the first report of Argentinean patients with TC deficiency that detected a new variant in TCN2. NBS may be a tool for the early detection of TC deficiency. This data emphasizes that TC deficiency is a severe disorder that requires early detection and long-term, aggressive therapy. Accurate diagnosis is imperative, because early detection and treatment can be life-saving.

Vitamin B12 deficiency-induced megaloblastic anemia in a pediatric patient with autism spectrum disorder with a chronically unbalanced diet.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common among children with ASD because of their persnickety nature. A prolonged unbalanced diet results in an increased risk of several diseases, such as iron deficiency anemia, scurvy, rickets, dry eye, and Wernicke encephalopathy. However, no cases of megaloblastic anemia have been reported to date. We report the case of an 11-year-old boy with ASD who developed megaloblastic anemia due to vitamin B12 deficiency. He had a prolonged history of selective eating for more than 10 years. His nutritional status on admission was poor, and he had low weight and short stature. His food selectivity was so strong that intervention to expand diet variety was unsuccessful. A developmental-behavioral pediatrician found that the patient had visual dominance and could take some medications when suffering from a minor illness. Nutritional supplements were selected after consultation with a nutritionist. Although compulsory treatment was necessary during the acute phase, the therapy was continued at home. With multidisciplinary intervention tailored to the patient and his parents' characteristics, his nutritional status improved in a few months.

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

BACKGROUND: Erlotinib 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 DESCRIPTION: Herein, 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. CONCLUSIONS: This 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.

Knuckle hyperpigmentation in a young male: A clinical sign of B12 deficiency not to be missed.

Vitamin B12 and folate deficiency are reversible causes of megaloblastic anemia. Strict vegetarians are at risk of megaloblastic anemia due to low cobalamin in their diet. Knuckle hyperpigmentation in patients with megaloblastic anemia is due to excess melanin synthesis in skin. Here we present a case of a young vegetarian male with megaloblastic anemia with knuckle hyperpigmentation managed successfully with intravenous followed by oral vitamin b12 and folate supplementation.

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.

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. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed. CONCLUSIONS: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.

Pernicious Anemia With Spuriously Normal B12 Levels.

We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup showed pancytopenia with severe macrocytic anemia, laboratory and blood smear features of hemolysis, low reticulocyte percentage and a negative direct Coombs test. B12 and folate levels were normal. As bone marrow aspirate was suggestive of megaloblastic anemia and upper endoscopy showed atrophic gastritis, we ordered homocysteine (elevated) and intrinsic factor (IF) antibodies (positive). The workup led to the diagnosis of pernicious anemia with spuriously normal B12 levels. Replacement therapy allowed a rapid recovery. We highlight that the presence of IF antibodies can interfere with the competitive binding assays commonly used to measure B12 levels.

The Association Between Vitamin B1 Deficiency and Anemia Among Elderly Patients at a Rural Hospital in Japan: A Cross-Sectional Study.

Background and objective Vitamin B1 deficiency can cause a variety of abnormalities in the neuropsychiatric, cardiovascular, and other systems. This condition can be rapidly corrected and prevented from progressing to irreversible sequelae through vitamin B1 supplementation. Therefore, early detection of and intervention in vitamin B1 deficiency are essential. We have previously demonstrated an association between vitamin B1 deficiency and appetite loss in hospitalized older adult patients in rural Japan. This study aimed to examine the additional predictors of vitamin B1 deficiency in patients with appetite loss and other symptoms suggestive of vitamin B1 deficiency. Material and methods This cross-sectional study involved 519 patients admitted to a rural hospital between April 2020 and March 2022. Data on vitamin B1 levels, age, sex, BMI, albumin levels, functional independence measure (FIM), hemoglobin levels, Charlson Comorbidity Index (CCI), and medications were collected from electronic medical records. Vitamin B1 deficiency was defined as serum vitamin B1 level <20 µg/dL. Data were analyzed using the Mann-Whitney U test, Student's t-test, and chi-square test, followed by multivariate logistic regression to examine the predictors of vitamin B1 deficiency. Results A total of 113 patients (21.5%) were found to be vitamin B1-deficient. Multivariate logistic regression showed that anemia was significantly associated with vitamin B1 deficiency [adjusted odds ratio (AOR): 1.71, 95% confidence interval (CI): 1.07-2.73, p<0.05]. Conclusion Based on our findings, anemia is significantly associated with vitamin B1 deficiency in hospitalized Japanese patients living in rural areas. Therefore, physicians should be mindful of the possibility of vitamin B1 deficiency in hospitalized patients with anemia.

Imerslund-Gräsbeck Syndrome: Clinical Case

Introduction: Imerslund-Gräsbeck syndrome (IGS) is a rare congenital disorder characterized by decreased vitamin B12, megaloblastic anemia, and proteinuria. Clinical case: A 58-year-old woman with four episodes of generalized tonic movements whose paraclinical findings showed cyanocobalamin deficiency. The presence of gait disturbances and constitutional syndrome was reported upon questioning, which required further investigation. The extension tests confirmed type 1 IGS, so it was decided to continue the cyanocobalamin management and nutrition evaluation, with which an adequate evolution was achieved. The patient was eventually discharged. Conclusion: This pathology is low prevalence and mainly affects the first decade of life. It prefers the female sex and is characterized by a decrease in vitamin B12, which can predispose to other disorders such as ataxia and growth retardation.

Introducción: el síndrome de Imerslund-Gräsbeck es un trastorno congénito infrecuente caracterizado por disminución de la vitamina B12, anemia megaloblástica y proteinuria. Caso clínico: mujer de 58 años de edad con cuatro episodios de movimientos tónicos generalizados cuyos paraclínicos mostraban deficiencia de cianocobalamina, por lo que en el interrogatorio se reportaba la presencia de alteraciones en la marcha y síndrome constitucional que requería ampliar los estudios. Los exámenes de extensión confirmaron el síndrome de Imerslund-Gräsbeck tipo 1, de modo que se decidió continuar el manejo con cianocobalamina y valoración con nutrición, con lo que se obtuvo una adecuada evolución y se decidió dar egreso a la paciente. Conclusión: esta patología tiene una baja prevalencia y afecta principalmente a la primera década de la vida, tiene predilección por el sexo femenino y se caracteriza por una disminución de la vitamina B12, que puede predisponer a otras alteraciones como ataxia y retraso en el crecimiento.

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.

Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS. Case presentation: A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication. Conclusion: Megaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome.

Pancytopenia in celiac disease-A case series of 20 children.

Pancytopenia in children with celiac disease (CeD) is postulated to be due to nutritional deficiency such as vitamin B12, folate and copper or an autoimmune process resulting in aplastic anemia with hypoplastic marrow. In the present case series, we report the profile and explore the etiology of pancytopenia among children with CeD. There are only a few case reports of pancytopenia in children with CeD. We enrolled newly diagnosed cases of CeD and pancytopenia presenting in the celiac disease clinic over three years. Detailed evaluation was carried out for the cause of pancytopenia. We followed up on the cases for compliance and response to gluten-free diet at three months, six months and 12 months. Twenty patients were eligible for inclusion. They were divided into two groups: one with aplastic anemia with hypoplastic marrow labeled as Gp CeD-AA and the other with megaloblastic/nutritional anemia labeled as Gp CeD-MA. Patients in Gp CeD-MA presented with classical symptoms of CeD as recurrent diarrhea, abdomen distension, pallor and poor weight gain. They had none or just one transfusion requirement and had an early and complete recovery from pancytopenia. Patients in Gp CeD-AA presented with atypical symptoms such as epistaxis, short stature, fever, pallor and weakness. They had a multiple blood transfusion requirement and had delayed and partial recovery from pancytopenia. Pancytopenia is not a disease in itself but is the presentation of an underlying disease. It can occur due to various coexisting disorders in children with CeD, which can be as simple as nutritional deficiencies to as complex as an autoimmune process or malignancy. CeD should be included in the differential diagnosis of aplastic anemia as CeD and aplastic anemia both have a similar pathological process involving T cell destruction of tissues.

Effect of megaloblastic anemia on hemoglobin A2 and diagnosis of ß-thalassemia trait.

Context: ß-thalassemia trait is usually diagnosed by raised hemoglobin A2 (HbA2). The presence of megaloblastic anemia can cause an increase in HbA2 and create a diagnostic dilemma. Here, we have analyzed the effect of vitamin B12 and folic acid supplementation on HbA2 and diagnosis of ß-thalassemia trait in cases of megaloblastic anemia with raised HbA2. Materials and Methods: Cases of megaloblastic anemia with raised HbA2 on high-performance liquid chromatography (HPLC) were supplemented with vitamin B12 and folic acid. Post-treatment evaluation was done after 2 months. Cases showing adequate hematological response were subjected to statistical analysis. Based on post-treatment HbA2 value, the cases were diagnosed as normal, borderline raised HbA2, or ß-thalassemia trait. Pre- and post-treatment values of red cell parameters and HbA2 were analyzed. Results: There was a significant decrease in HbA2 value after vitamin B12 and folic acid supplementation. The diagnosis was changed in 70.97% of the cases after treatment. The chance of inconclusive diagnosis was decreased from more than 50% to less than 10%. Pre-treatment mean corpuscular volume (MCV) and HbA2% showed a significant difference between the thalassemic and normal groups. Conclusions: Megaloblastic anemia can lead to false-positive diagnosis of ß-thalassemia trait on HPLC. Repeat HPLC should be done after adequate supplementation of vitamin B12 and folic acid in cases of megaloblastic anemia with raised HbA2. Red cell parameters are not helpful to suspect ß-thalassemia trait in presence of megaloblastic anemia. However, HbA2% on HPLC can be a useful parameter to suspect or exclude ß-thalassemia trait in cases of megaloblastic anemia.