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.

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

Context: ?-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 ?-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 ?-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 ?-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 ?-thalassemia trait in presence of megaloblastic anemia. However, HbA2% on HPLC can be a useful parameter to suspect or exclude ?-thalassemia trait in cases of megaloblastic anemia.

Flow cytometry-detected changes in megaloblastic anemia secondary to cobalamin deficiency

Introduction: Megaloblastic anemias secondary to Vitamin B12 deficiency are a group of pathologies produced by defective nuclear DNA synthesis. Objective: To describe the maturation alterations found in hematopoietic precursors of the bone marrow in a series of patients with megaloblastic anemia. Methods: Were included patients attended at the Regional Hospital of Concepción with bone marrow samples sent for the study of cytopenia by flow cytometry whose final diagnosis was megaloblastic anemia. The immunophenotype was performed with CD45, CD34, CD117, HLA-DR, markers of neutrophil (CD13, CD11b, CD10, CD16) and/or erythroblast (CD105, CD71, CD36) maturation. Results: From the flow cytometry laboratory database, 8 patients with megaloblastic anemia were identified, and myelodysplastic syndromes (n=9) and normal or reactive bone marrow (n=10) were used as controls. 44% were men, with a median age of 58 years. Megaloblastic anemia was associated with a higher proportion of size and complexity of erythroid and myeloid progenitors compared to lymphocytes compared to controls. The total percentage of erythroblasts and the proportion of CD34+ myeloid cells associated with erythroid lineage was higher in megaloblastic anemia, associated with a maturation arrest in the CD105+ precursor stage (69% vs 19% and 23%, p<0.001). The heterogeneity of CD36 and CD71 in megaloblastic anemia was similar to myelodysplastic syndromes. Conclusions: Megaloblastic anemia produces a heterogeneous involvement of hematopoiesis, characterized by a greater size and cellular complexity of precursors of the neutrophil and erythroid series and a maturation arrest of the erythroblasts.

Introducción: Anemias megaloblásticas secundarias a la deficiencia de vitamina B12 son patologías producidas por una síntesis defectuosa del ADN nuclear. Objetivo: Describir las alteraciones madurativas encontradas en precursores hematopoyéticos de la médula ósea de una serie de pacientes con anemia megaloblástica. Métodos: Se incluyeron pacientes atendidos en el Hospital Regional de Concepción con muestras de médula ósea enviadas para estudio de citopenias por citometría de flujo cuyo diagnóstico fue anemia megaloblástica. El inmunofenotipo se realizó con CD45, CD34, CD117, HLA-DR, marcadores de maduración de serie de neutrófilo (CD13, CD11b, CD10, CD16) y/o eritroblasto (CD105, CD71, CD36). Resultados: Se identificaron 8 pacientes con anemia megaloblástica y como controles se utilizaron síndromes mielodisplásicos (n=9) y médula ósea normal o reactiva (n=10). El 44% eran hombres, con una mediana de edad de 58 años. La anemia megaloblástica se asoció con una mayor proporción de tamaño y complejidad de progenitores eritroides y mieloides con respecto de los linfocitos en comparación a los controles. El porcentaje total de eritroblastos y la proporción de células mieloides CD34+ comprometidas con el linaje eritroide fue mayor en anemia megaloblástica, asociado a una parada madurativa en la etapa de precursor CD105+ (69% vs 19% y 23%, p <0.001). La heterogeneidad de CD36 y CD71 en anemia megaloblástica fue similar a los síndromes mielodisplásicos. Conclusiones: la anemia megaloblástica produce una afectación heterogénea de la hematopoyesis, caracterizada por un mayor tamaño y complejidad celulares de precursores de la serie neutrófilo y eritroide y una detención madurativa de los eritroblastos.

EVALUATION OF PANCYTOPENIA WITH BONE MARROW INTERPRETATION

Background: Pancytopenia is one of the most common clinico-haematological entity observed in our day to day clinical practice. It is a disorder in which all the three major elements of blood (i.e. red blood cells, white blood cells and platelets) are decreased in number. The causes of pancytopenia may be due to decrease in hematopoietic cell production in the marrow resulting from infections, toxins, malignant cell in?ltration, post- chemotherapy or post-radiation. Aims and Objectives: 1) To study the etiology and clinical presentation of pancytopenia in all age groups. 2) To correlate with bone marrow interpretation Materials & Methods: This is a prospective study which was conducted among 50 patients of pancytopenia in the Clinical Pathology, Government General Hospital,Kurnool from January 2021 to October 2022 Bone marrow aspiration was done by using Salah's bone marrow puncture needle. Smears were made from bone marrow aspirate (BMA) and stained by Leishman stain and special stains like Perl`s wherever necessary. The smears were assessed for cellularity, differentiation and maturation of erythroid, myeloid and megakaryocytic lineage, M:E ratio, Plasma cells, Lymphocytes and parasites/ abnormal cells. In the present study the commonest cause of Pancytopenia was Megaloblastic anemia (70%) followed by Results: Dimorphic anemia (20%). The less common conditions were Multiple Myeloma (6%),Chronic Myeloid Leukemia(2%),Acute Leukemia(2%). The present study concludes that complete primary hematological Interpretation and Conclusion: investigations along with bone marrow aspiration in pancytopenic patients are helpful for understanding disease process and to diagnose or to the rule out causes of pancytopenia. These are also helpful in planning for further investigations and management

Spectrum-of-haematological-disorders-in-bone-marrow-aspiration-at-tertiary-care-hospital-jorhat

Anemia is a common symptom of haematological disorders in people of all ages .The spectrum of haematological disorders differs significantly between developing and industrialized countries. The primary use of bone marrow aspirate is for cytological examination. It enables study into the cellularity of the bone marrow as a whole, the detection of specific lesions, and the amount of infiltration by various disease entities. The aim of the study is toAims & objective: evaluate the spectrum of haematological disorders reported in bone marrow aspiration and to know the age and sex incidence. This prospective study is an observational study was conducted over a one-yearMaterials and methods: period on 73 patients and the spectrum of hematological disorders was studied on bone marrow aspiration smears. Conclusion: A thorough examination of the bone marrow is essential for diagnosing haematologic disorders. It is a simple and cost effective procedure which can be performed routinely without using any specialized equipment or a need of general anaesthesia

Diferentes formas de presentación de la anemia megaloblástica en el lactante / Different forms of presentation of megaloblastic anemia in the infant

Introducción: La anemia megalobástica es un trastorno madurativo de los precursores eritroides y mieloides causado por déficit de vitamina B12, ácido fólico, o ambos. Es poco común en la infancia y su prevalencia se desconoce por ser una enfermedad poco frecuente. Objetivo: Describir diferentes formas de presentación de la anemia megaloblástica en el lactante. Presentación de casos: Se presentan dos casos de lactantes, en el caso 1 la madre tuvo una alimentación precaria durante el embarazo y la lactancia, prolongó la lactancia materna exclusiva más de 6 meses. La paciente comenzó a perder las habilidades ganadas en el desarrollo psicomotor y presentó trastornos neurológicos graves, por lo que se consideró que se trataba de una enfermedad progresiva del sistema nervioso central. En el caso 2, en el que se prolongó la lactancia materna exclusiva, apareció trombocitopenia, por lo que se sospechó una enfermedad hematológica maligna. Resultados: En ambos casos después de realizar diversas pruebas para descartar enfermedades neurológicas (caso 1) y enfermedades hematológicas (caso 2) se diagnosticó anemia megaloblástica por déficit de vitamina B12 por disminución en la ingesta y una reserva limítrofe en la madre que lacta. En ambos casos los síntomas desaparecieron con el tratamiento vitamínico sustitutivo. Conclusiones: En el lactante la anemia megaloblástica se puede presentar de diferentes formas clínicas a pesar de tener la misma causa, un déficit en la ingesta y una reserva escasa de la madre durante el embarazo y lactancia(AU)

Introduction: Megaloblastic anemia is a maturing disorder of the erythroid and myeloid precursors caused by deficiency of vitamin B12, folic acid, or both. It is uncommon in childhood and its prevalence is unknown because it is a rare disease. Objective: To describe different forms of presentation of megaloblastic anemia in infants. Presentation of cases: Two cases of infants are presented, in case 1 the mother had a precarious diet during pregnancy and lactation, and prolonged exclusive breastfeeding more than 6 months. The patient began to lose the skills gained in psychomotor development and presented severe neurological disorders, so it was considered that it was a progressive disease of the central nervous system. In case 2, in which exclusive breastfeeding was prolonged, thrombocytopenia appeared, so a malignant hematological disease was suspected. Results: In both cases, after performing various tests to rule out neurological diseases (case 1) and hematological diseases (case 2), megaloblastic anemia was diagnosed due to vitamin B12 deficiency due to a decrease in intake and a borderline reserve in the breastfeeding mother. In both cases the symptoms disappeared with vitamin replacement therapy. Conclusions: In the infant, megaloblastic anemia can occur in different clinical ways despite having the same cause, a deficit in intake and a low reserve of the mother during pregnancy and lactation(AU)

Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos / Imerslund-Gränsbeck Syndrome: systematic review of clinical cases

Resumen Introducción: el Síndrome de Imerslund-Gränsbeck es un trastorno congénito inusual que cursa con disminución de la Vitamina B12, anemia megaloblástica y proteinuria sin afección renal que cual se produce por una mutación de los cromosomas 10 y 14, que condicionan un defecto en el receptor del complejo vitamina B12-factor intrínseco del enterocito ileal. Fue descrita por Olga Imerslund y Armas Gransbeck. Objetivo: caracterizar a la población que ha padecido el Síndrome de Imerslund-Gränsbeck. Metodología: revisión sistemática de la literatura de casos clínicos. Resultados: se incluyeron 68 casos, en la mayoría de los casos el diagnostico en los primeros 10 años de vida, en el que se evidenció una mayor frecuencia en mujeres, y se encontró asociado con antecedentes familiares como consanguinidad entre padres (14,6%). La manifestación más frecuente fue palidez (20,9%), seguido de vomito (10,5%) y anorexia (9,8%). La anemia megaloblástica (66,2%) fue el hallazgo más frecuente y el tratamiento se dio con cianocobalamina (intramuscular u oral) para regular las concentraciones plasmáticas de esta vitamina. Conclusión: el Síndrome de Imerslund Gränsbeck tiene una baja prevalencia y se presenta con mayor frecuencia en el continente europeo, tiene predilección por el sexo femenino y se caracteriza por una disminución de la vitamina B12 que pueden que puede predisponer a otras alteraciones como ataxia y retraso en el crecimiento.

Abstract Introduction: Imerslund-Gränsbeck Syndrome is an unusual congenital disorder that causes a decrease in vitamin B12, megaloblastic anemia and proteinuria without kidney involvement that is caused by a mutation of chromosomes 10 and 14, which determine a defect in the complex receptor vitamin B12-ileal enterocyte intrinsic factor. It was described by Olga Imerslund and Armas Gransbeck. Objective: to characterize the population that has suffered from Imerslund Gränsbeck syndrome. Methodology: systematic review of the clinical case literature. Results: 68 cases were included, in most cases the diagnosis in the first 10 years of life, in which a higher frequency was found in women, and was found to be associated with family history such as consanguinity between parents (14.6%). The most frequent manifestation was paleness (20.9%), followed by vomiting (10.5%) and anorexia (9.8%). Megaloblastic anemia (66.2%) was the most frequent finding and treatment was given with cyanocobalamin (intramuscular or oral) to regulate plasma concentrations of this vitamin. Conclusion: Imerslund-Gränsbeck Syndrome has a low prevalence and occurs more frequently in the European continent, has a predilection for females and is characterized by a decrease in vitamin B12 that may predispose to other disorders such as ataxia and retardation in growth.

A Prospective and Retrospective Study of Bone Marrow in Patients with Pancytopenia– A Study of 150 Cases

BACKGROUND : The bone marrow is widely distributed organ and is the principle site for blood cells forma?on. The broad spectrum of disorders affects the marrow primarily or secondarily with presenta?on of peripheral pancytopenia. Hence, bone marrow examina?on is extremely helpful in evalua?on of pancytopenia. This study emphasizes the different causes of pancytopenia and bone marrow morphology in cases of pancytopenia. MATERIALS & METHODS: The present study is a retrospec?ve and prospec?ve study done in the department of Pathology, for a period of two years. All the relevant history, clinical details, radiological details, and biochemistry parameters were considered. RESULTS: Out of 150 cases,96 were males and 54 were females. Majority of the pa?ents were in the age group of 41-60 years (54%) amongst whom Megaloblas?c anaemia was the most important cause of pancytopenia. CONCLUSION: Bone marrow aspira?on is rela?vely a very safe invasive procedure and primarily permits cytological assessment since the underlying pathology determines the management and prognosis of the pa?ents.

Anemia megaloblástica. A propósito de un caso / Megaloblastic anemia

La OMS reporta anemia en 24,8% de la población con predominio en países en desarrollo. La anemia megaloblástica, es una causa frecuente en la población adulta mayor. Se caracteriza por alteración en la síntesis de ácido desoxirribonucleico por deficiencia de vitamina B12 y/o folatos. Presentamos el caso de una mujer con manifestaciones clínicas y alteraciones de laboratorio características. Recibió tratamiento combinado con cianocobalamina y ácido fólico. Paulatinamente presentó reversión clínica y laboratorial. A pesar del nombre, la anemia megaloblástica, suele cursar con anemia, bicitopenia o ancitopenia y alteraciones sistémicas. Es obligatorio buscar la causa desencadenante para instaurar el tratamiento completo.

The WHO reports anemia in 24.8% of the population mainly in developing countries. Megaloblastic anemia is a frequent cause in the elderly population and it is due to an impaired synthesis of deoxyribonucleic acid. A deficiency of vitamin B12 and / or folic acid are the main causes. We present the case of a woman with characteristic clinical manifestations and laboratory abnormalities. She was treated with cyanocobalamin and folic acid. She improved and her laboratory tests got to normal gradually. Despite the name, megaloblastic anemia usually presents anemia, bicytopenia or pancytopenia and systemic manifestations. It is mandatory to search for the etiologic cause to make a complete treatment.

Bone Marrow Aspiration Findings in Hematological Disorders in Children

Background: Primary objective was to study bone marrow aspiration(BMA) findings in hematological disorders in children with secondary objective to find correlation between peripheral blood film (PBF) findings with BMA.Material & Methods:It was observational and cross-sectional study conducted on 65 children in age group of 1-18 yrs admitted to Pediatrics Department of Government Medical College, Patiala over period of 1 yr. Inclusion criteria was based on clinical and laboratory parameters. Children were of anaemia, leucopenia and pancytopenia. Complete hemogram, reticulocyte count, PBF smear and bone marrow aspiration were done. The data was analyzed using IBM Statistical Packages for Social Sciences SPSS software version 22.Results:The mean age of study population was 10.39�29yrs. 93.8% children presented with pallor followed by fever in 84.6% and lethargy in 66.2%. 62 children were severely anaemic, 33 had bicytopenia, 23 children had pancytopenia. Bone marrow was hypercellular in 59 (90.8%) children. 40 (61.5%) children had megaloblastic anaemia on BMA followed by dimorphic anaemia in 8, Idiopathic thrombocytopenic purpura in 6 children. 4 children each had Megaloblastic anaemia with gelatinous transformation and micronormoblastic anaemia. 2 children had acute lymphatic leukemia and one had aplastic anaemia. The predominant PBF was dimorphic in 30 children, out of whom 22 had megaloblastic anaemia and 8 had dimorphic anaemia on BMA. Conclusions:Bone marrow was megaloblastic in majority (61.5%) of children. There was no significant association found between PBF findings and bone marrow diagnosis.

New progress in the diagnosis and treatment of thiamine responsive megaloblastic anemia syndrome / 中华实用儿科临床杂志

Thiamine responsive megaloblastic anemia syndrome is a rare autosomal recessive disease caused by mutations of the SLC19A2 gene that encodes the high-affinity thiamine transporter-1.Thiamine responsive megaloblastic anemia syndrome involves extensive organs and systems with various clinical manifestations.The typical triad is megaloblastic anemia, non-autoimmune diabetes, and sensorineural deafness.The diagnosis of thiamine responsive megaloblastic anemia syndrome depends on the detection of the pathogenic gene SLC19A2.Thiamine replacement therapy is the first-line treatment.Blood glucose of patients with thiamine responsive megaloblastic anemia syndrome should be comprehensively managed, and hearing aids and cochlear implants can be used to improve the hearing.

Aetiology of pancytopenia: Experience of a South African tertiary academic centre

Background: Pancytopenia is a manifestation of numerous disease entities. The causes of pancytopenia differ with geographic region, socio-economic factors and HIV prevalence. Awareness of the common causes of pancytopenia may aid timely diagnosis. Objective: This study aimed to determine the aetiology of pancytopenia in a South African population.Methods: A retrospective observational study of adult patients presenting with pancytopenia at Tygerberg Academic Hospital, South Africa, from January 2016 to December 2017 was performed. Data on pancytopenia cases were obtained from the laboratory information system and utilised to determine the causes of pancytopenia. Results: A total of 673 cases of pancytopenia were identified. The most common causes of pancytopenia were chemoradiation therapy (25%), sepsis (18%), haematological malignancy (9%), advanced HIV (7%), and megaloblastic anaemia (6%). The diagnostic yield of bone marrow examinations (BME) was 57% (n = 52/91). The aetiology of pancytopenia differed according to age, with malignancy being a more common cause of pancytopenia among the elderly. Conclusion: Several easily recognisable and treatable conditions can manifest as pancytopenia. Prompt management of such conditions, notably sepsis and megaloblastic anaemia, can result in the resolution of the cytopenias and negate the need for a BME. However, haematological malignancy and unexplained pancytopenia strongly rely on a BME to establish a diagnosis. Pancytopenia investigations, when guided by appropriate clinic-laboratory findings, can promptly identify the underlying aetiology, while also identifying cases where an expedited BME is required. This is valuable in resource-conscious medicine

Lithium Toxicity Associated with Pancytopenia And Megaloblastic Anaemia.

A 29-year-old male was treated for Bipolar Affective Disorder since 5 months with Lithium 400 mg per day which was gradually up titrated to 800 mg in 10 days of start of treatment in view of minimal improvement in symptoms. After 2 months of treatment patient started experiencing weakness and fatiguability. During third month of treatment patent had complaints of 3 episodes of vomiting associated with nausea, mild abdominal pain, diarrhea, dyspnea on exertion, restlessness, tremors, dry mouth and decreased sleep. Patient was brought to emergency department and all baseline investigations were done which were suggestive of Pancytopenia. Hematology reference was done, and lithium toxicity was considered as contributing factor for above symptoms and results. Short-term lithium administration may be life-threatening and should thus be prescribed cautiously in hematological disorders as in other conditions

Consideraciones generales para estudiar el síndrome anémico Revisión descriptiva / General considerations for studying anemia syndrome. Descriptive review

Introducción: la anemia es un problema de salud pública en países desarrollados y no desarrollados; esta entidad tiene repercusiones en el desarrollo socioeconómico de las comunidades y, especialmente, en la salud de embarazadas, niños y jóvenes. Objetivo: describir los aspectos generales del síndrome anémico, sus presentaciones más frecuentes y el estado del arte de dicha problemática en el suroccidente colombiano. Método: se realizó una búsqueda bibliográfica con un lapso de 30 años (1990-2020) en Medline, Google Scholar, Lilacs y Redalyc, para revisar los conceptos generales del síndrome anémico, anemia por déficit de hierro, anemia megaloblástica, anemia hemolítica y anemia de células falciformes, en función de la etiología, epidemiología, manifestaciones clínicas, diagnóstico y pronóstico. Resultados: el síndrome anémico es una entidad frecuente en varias regiones de Colombia, con alta carga epidemiológica, complicaciones y pronóstico importantes. Se realizó la descripción general de las presentaciones más frecuentes del síndrome anémico. Conclusión: hacen falta estudios para todas las regiones del país, particularmente, en el suroccidente colombiano..Au

Introduction: anemia is a public health problem both in developed and undeveloped countries; this entity has repercussions in socioeconomic development of communities and, especially, compromises pregnant women, children and young people health. Objective: to describe the general aspects of anemia syndrome, its most frequent presentations and the state of the art of this problem in southwestern Colombia. Methods: a literature search with a span of 30 years (1990-2020) was performed in Medline, Google Scholar, Lilacs and Redalyc databases, in order to describe the general concepts of anemic syndrome, iron deficiency anemia, megaloblastic anemia, hemolytic anemia and sickle cell anemia, regarding on its etiology, epidemiology, clinical manifestations, diagnosis and prognosis. Results: anemic syndrome is a frequent entity in several Colombian regions, with high epidemiological burden, complications and important prognoses. The general description of the most frequent presentations of anemia syndrome was made. Conclusion: additional studies are required for each region, particularly in southwestern Colombia..Au

Study of etiological spectrum and clinical profile of patients admitted in tertiary care hospital of South Gujarat, India

Background: Pancytopenia is defined as reduction of all three formed elements of blood below normal reference range. The symptoms are fatigue, fever, dizziness and weight loss. Evaluation was done using complete hemogram and peripheral smear. The presenting marrow biopsy is most useful and accurate in evaluation of pancytopenia.Methods: Two ml of anticoagulated blood was collected for complete hemogram. The peripheral blood smear was stained with Leishman's stain and studied. Bone marrow biopsy and aspiration was done in all the patients to identify etiology.Results: Predominance was seen in the age group of 31-60 years. Most common cause of pancytopenia was megaloblastic anaemia in this study compared to other studies all over the world where most common cause was aplastic anaemia. This reflects higher prevalence of megaloblastic anaemia in the Indian subjects.Conclusions: A comprehensive clinical, haematological land bone marrow study of patients with pancytopenia usually helps in identification of the underlying cause.

A study of aetiology and clinical profile of 50 patients presenting with pancytopenia

Background: Pancytopenia is reduction of all the three cellular components which includes anemia, leukopenia and thrombocytopenia. Pancytopenia is striking feature of many serious and life threatening illness ranging from simple drug induced bone marrow hypoplasia, megaloblastic marrow to fatal bone marrow aplasia and leukemias. Pancytopenia has variety of etiologies but most common and reversible is Vitamin B12 deficiency, so early and accurate diagnosis may be lifesaving.Methods: Study conducted prospectively in 50 patients of pancytopenia with age >12 years, who were admitted to department of medicine in Dr. M.K. Shah Medical College between 2018 to 2020. A complete clinical history and examination was carried out. They were evaluated for complete blood count with peripheral smear, liver function test, renal function test, vitamin B12 level, radiological imaging and bone marrow examination in selected patients.Results: The etiological causes of pancytopenia were recorded as vitamin B12 deficiency (n 30,60%), Infections (n11,22%),Hypersplenism (n 4;8%), aplastic anemia (n 3; 6%), Drug induced (n 1; 2%) and SLE (n1; 2%). Presenting symptoms in these patients were lethargy, malaise, generalized weakness, dyspnoea on exertion and fever while signs were pallor, splenomegaly and hyperpigmentation. All patients of megaloblastic anemia had macrocytic picture in peripheral smear and all of them were improved after treatment with vitamin B12 supplement.Conclusions: Pancytopenia is not an uncommon clinical entity and has various etiologies. Most common cause of pancytopenia was B12 deficiency and most common symptoms and signs were generalized weakness and pallor respectively. Most of the etiological causes could be diagnosed with laboratory analysis and radiological imaging without the need of a bone marrow examination.

Peripheral cytopenia in children: a hospital-based study

Background: Peripheral cytopenia with its ramifications as pancytopenia and bicytopenia is a common hematological phenomenon in children. Its etiology ranging from benign self-limiting illness to severe life-threatening conditions decide the management and prognosis in these children. This study aims to describe the clinical, haematological and etiological profile of peripheral blood cytopenia in children of Rohilkhand region.Methods: A hospital based prospective observational study conducted in the Pediatric ward of a teaching hospital over a period of 30 months. All children between age 6 months to 14 years with bicytopenia and pancytopenia on hemogram were included. Detailed history, clinical examination, haematological tests followed by bone marrow aspiration wherever indicated was performed. Additional tests like parasitological and sepsis work up was undertaken on case to case basis, to ascertain the cause of cytopenia.Results: Bicytopenia was more common than pancytopenia (61.2% vs. 38.8%) The most common age group observed was 10-14 years. Normocytic normochromic blood picture was seen in all cases of cytopenia while macrocytic normochromic blood picture had statistically significant association with pancytopenia. Fever was the commonest symptom, while pallor was the commonest sign followed by hepatosplenomegaly. Most common etiology in bicytopenia was infective (68%) while pancytopenia reported equal incidence of infective (50%) and non-infective causes. Malaria was the commonest infective cause of bicytopenia (46.3%) and pancytopenia (27%). Children with bicytopenia had higher incidence of malignancy (22% vs. 7.7%) and lesser incidence of nutritional causes (7.3% vs. 27%), and aplastic anemia (2.4% vs. 15.4%) as compared to pancytopenia.Conclusions: Clinical assessment coupled with haematological tests plays a pivotal role in ascertaining the cause of cytopenia in children. As the etiologies are varied, their knowledge and distribution unique to a particular region may help in better management and outcome.

Megaloblastic anemia and non-vegetarian diet – Is there a changing trend?

Background: According to various studies, non-vegetarians are not at an inherent risk of developing megaloblastic anemia, a common deficiency of Vitamin B12. However, recent trends of the consumption of non-vegetarian food in the processed form as well as changes in cooking methods may gradually change the trend of the occurrence of megaloblastic anemia in nonvegetarians. Very few studies have been conducted on the same in a non-vegetarian population. Objectives: The objective of this study was to study the prevalence of megaloblastic anemia in a non-vegetarian population. Materials and Methods: The study was conducted on 100 non-vegetarian adults after due approval of the institutional ethics committee. The patients were evaluated on the basis of their hematological profile including peripheral smear examination and indices. Results: About 29% of total patients presented with features suggestive of megaloblastic anemia, of which 72% of patients agreed to predominantly be consuming non-vegetarian food from processed sources such as fast-food outlets at an average frequency of 3 weeks. Conclusion: There is a changing trend of megaloblastic anemia in the non-vegetarian population. Processing of food and change in conventional cooking practices along with the recent decline in home cooking of meat seem to be the major factors putting the non-vegetarians at a risk of developing megaloblastic anemia.

Clinical profile and etiological causes of pancytopenia: a study in a tertiary care hospital

Background: Pancytopenia is a condition which involves the presence of anemia, leucopenia and thrombocytopenia. Symptoms of pancytopenia include fatigue, bleeding, dyspnea, and increased tendency to infections. The evaluation of pancytopenia is by complete blood picture and peripheral blood smear including that of reticulocytes. Bone marrow examination is extremely helpful.Methods: Demographic details were collected from all the patients and physical examination was done. The patients were asked to undergo biochemical investigations, chest X rays and USG of abdomen. Smears were taken from peripheral blood as well as bone marrow biopsy and stained. Invasive procedure such as bone marrow biopsy is done if needed.Results: A predominance of males was seen over females and 11-30 years age group was the most affected. The most common cause was megaloblastic anemia followed by aplastic anemia and tuberculosis. The most common symptom were fatigue, dyspnea, fever and bleeding.Conclusion: Early identification of this disease would help in early planning for management thereby improving the survival rates.

A prospective clinico‑hematological study in 100 cases of Pancytopenia in a tertiary care teaching hospital

Background: Pancytopenia is encountered regularly in haematology practice, yet there exist only few published assessments of the frequencies of various aetiologies and this exhibit substantial geographic variation. Pancytopenia is a manifestation of many life- threatening diseases with a wide range of differential diagnosis. Haematological investigation forms the bedrock in the detection and management of patients with pancytopenia.Methods: This study is a prospective study conducted in the Institute of pathology and haematology, Madras medical college and Rajiv Gandhi Government General Hospital, Chennai during the period from August 2015 to August 2016 on 100 cases. Case selection is based on clinical features and supported by laboratory evidence. Peripheral smear was obtained and stained by Leishman stain for all cases and examined in detail. Bone marrow aspiration /biopsy was subsequently carried out under aseptic precautions.Results: Among the 100 cases studied, age of the patients ranged from 13 to 80 years with a slight male predominance. Most of the patients presented with generalized weakness and fever. The commonest cause for pancytopenia was aplastic anaemia followed by megaloblastic anaemia. The other causes include acute myeloid leukaemia, myelodysplastic syndrome, myelofibrosis, multiple myeloma, malarial parasite, miliary tuberculosis and osteopetrosis.Conclusions: Pancytopenia can be diagnosed, and its etiological profile can be ascertained with the help of detailed clinical history, meticulous physical examination and haematological investigations. Every attempt should be done to establish the underlying cause so that treatable conditions are diagnosed without delay and prognosis is improved.