The clinical diagnosis of megaloblastic anemias in infancy and childhood (original) (raw)

Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia

Indian Journal of Hematology and Blood Transfusion, 2008

Purpose of study This study was conducted to study the clinical and laboratory parameters in patients with macrocytic anemia and to determine the etiology of macrocytic anemia with special reference to megaloblastic anemia. Materials and methods This study was a cross-sectional descriptive study carried over a period of 18 months on 60 adult patients (age ≥13 years) of macrocytic anemia. Macrocytic anemia was identifi ed when peripheral blood examination showed anemia with a mean red blood corpuscular volume of >95 fl. Result The most common cause of macrocytic anemia was megaloblastic anemia (38.4%). The major causes of nonmegaloblastic macrocytic anemia were primary bone marrow disorders (35%), liver diseases (15%) and hemolytic anemia (8.3%). There was a signifi cant male preponderance in the study (65%). The megaloblastic anemias observed were due to either vitamin B 12 defi ciency (78.3%) or combined B 12 and folate defi ciency (21.7%). A signifi cant proportion of non-vegetarians (73.9%) had megaloblastic anemia. Patients with an MCV of >110fl were more likely to have megaloblastic anemia (p value 0.0007). Three patients (mean age 55 years) with a megaloblastic marrow did not respond to vitamin replacement and were found to have myelodysplastic syndrome. Conclusion Megaloblastic anemia due to Vitamin B 12 or folate defi ciency remains the most important cause of macrocytic anemia. In settings with limited laboratory facilities, a therapeutic trial of vitamins B 12 or folic acid is useful in determining the specifi c vitamin defi ciency.

Megaloblastic Anemia and Other Causes of Macrocytosis

Clinical Medicine & Research, 2006

The term macrocytosis refers to a blood condition in which red blood cells (RBC) are larger than normal. Macrocytosis is reported in terms of mean corpuscular volume (MCV). Normal MCV values range from 80 to 100 femtoliters (fl) and vary by age and reference laboratory. 1 MCV is calculated according to the following formula: MCV (fl) = [Hematocrit (percent) x 10]/[RBC count (10 6 /µL)] Macrocytosis can be identified by reviewing peripheral blood smears and/or by automated RBC indices. The peripheral blood smear is more sensitive than RBC indices for identifying early macrocytic changes because the MCV represents the mean of the distribution curve and is insensitive to the presence of small numbers of macrocytes. 2 However, compared to the peripheral blood smear, MCV may underestimate macrocytosis in over 30% of cases. 3 Although determination of the MCV by automated blood cell counter is rarely inaccurate, hyperglycemia, marked leukocytosis and cold agglutinins may result in false elevations of the MCV. 4-6 Moreover, partial occlusion of the instrument aperture and/or leaving the blood sample at room temperature for several hours may also result in false elevations of the MCV value. Clinical Significance Macrocytosis is a relatively common finding in the era of automated blood cell counters, with prevalence estimates ranging from 1.7% to 3.6%. 3,7,8 Its significance tends to be underestimated by physicians, since about 60% of patients present without associated anemia, 8 unless there are other accompanying abnormalities noted. No complications arise from macrocytosis itself as an isolated finding. However, its identification can provide important information regarding the presence of an underlying disease state. Thus, in the appropriate clinical setting, MCV values above the upper limit of normal or those that differ significantly from the patient's baseline values may require further clinical and laboratory assessment to determine the underlying cause of the macrocytosis. 9

Clinico-Haematological and Biochemical Profile of Megaloblastic Anemia

Journal of Medical Science And clinical Research, 2018

Background: Megaloblastic anemia (MA) is a distinct type of anemia characterized by macrocytic RBCs and typical morphological changes in RBC precursors. The RBC precursors are larger than the cells of same stage and exhibit disparity in nuclear-cytoplasmic maturation. Basic underlying pathogenetic mechanism in MA is deficiency of folic acid (FA) and/or vitamin B12 at the cellular level with resultant impairment of DNA synthesis. In developing countries, most cases of MA result from nutritional deficiency of these micronutrients. Aims and Objectives 1. To correlate and compare the clinico-hematological and biochemical profile of megalo blastic anemia. 2 .To find out the clinical and haematological features of severe anemia. Materials and Methods: This descriptive study included 60 cases of megaloblastic anemia to evaluate Association of biochemical profile of megaloblastic anemia. Data collected from case files, patient history, clinical profile, Peripheral blood findings, haematological parameters and biochemical parameters. Results: In our study, megaloblastic anaemia was mostly found in <5 years of age. The male to female ratio was 1.7:1 in our study. The most common clinical presentation was pallor & generalised weakness (100 %) followed by easy fatigability (60 %), fever (28.3 %), altered behaviour (13.3%) and tingling (16.9%) are found. Bleeding (18.3%), itching and red spots (6.6%) are found in patients having thrombocytopenia. Megaloblastic anemiawas found mostly in vegetarians (71.6%). The mean haemoglobin was 7.3 gm/dl. Splenomegaly and hepatomegaly were present in 21.3 % and 26.6 % respectively. There was complete correlation between parameters in 27/60 (45 %) cases only. Conclusion: Inadequate dietary intake, overcooking of our food and poor absorption contributing high prevalence of megaloblastic anemia.

Clinico-hematological profile of megaloblastic anemia

Indian pediatrics, 1998

Megaloblastic Anemia is one of the important causes of anemias in children. It is not an infrequent entity in poor socioeconomic condition. This condition has protean manifestations in childhood, sometimes mimicking a hematological malignancy like leukemia. Diagnosing this disease

Clinico-hematologic profile of megaloblastic anemia in children

International Journal of Contemporary Pediatrics, 2016

Background: Megaloblastic Anemia is an important reversible cause of neurodevelopmental deterioration. The present study intended to describe the common presenting scenarios, clinical and haematological manifestations of the disease. The main objective of study is to describe the varied clinical and hematologic manifestations of Megaloblastic Anemia in children admitted to a tertiary care hospital, and to observe the mode of presentation of disease and its distribution among various age groups. Methods: A Retrospective cross-sectional study was conducted in children between 6 months and 18 years, who were admitted with diagnosis of megaloblastic anemia from June 2010 to May 2015. Case records of eligible participants were analysed for primary outcome measures like presenting complaints, mode of diagnosis, peripheral smear findings, and clinical features and secondary outcome measures like age, sex, coexisting morbidities and nutritional status. Results: Of a total of 129 cases, in 58% subjects, diagnosis was confirmed by Vitamin B12 assay, 42% were diagnosed by bone marrow examination. Macrocytic anemia was observed in peripheral smear examination in 100% subjects. Hyperpigmentation was noticed in 78% of subjects. Blood transfusion secondary to severe anemia was needed in 79% of subjects. Anorexia, generalised weakness, pallor was observed in 100% subjects, neurologic manifestations in 38% subjects. Conclusions: The most common presenting complaint in megaloblastic anemia due to Vitamin B12 deficiency is anorexia, generalised weakness, irritability manifesting clinically as pallor, hyperpigmentation and haematologically as macrocytic anemia with bicytopenia. Regular report of common presentations of megaloblastic anemia in various age groups keeps the child care expert vigilant for its early detection.

Evaluation of Clinical Profile and Hematological Parameters of Cases of Megaloblastic Anemia

National Journal of Community Medicine, 2017

Background: Megaloblastic anemia is not uncommon in India. In India, the most common cause of megaloblastic anemia is nutritional where as it is the pernicious anemia in Northern Europe. Aims and objectives: To study age and gender-wise distribution, diet patterns, clinical features and hematological parameters in patients with megaloblastic anemia. Material and methods: This was an observational cross-sectional study of the hundred patients of megaloblastic anemia. We included patients having anemia with MCV>100 fL, serum vitamin B12 level <250 pg/ml and/ or serum folic acid level<3 ng/ml with normal serum ferritin level were included. Detailed history, physical examination, laboratory parameters and radiological investigation were done. Results: Megaloblastic anemia is most common in age between 20-40 years of age. Male subjects were commonly affected. Most of the patients (69%) belong to lower socio-economic class. 50% patients had severe anemia (Hb<7 gm %). Cobalamin deficiency was responsible for megaloblastic anemia in the majority of patients. Conclusion: Megaloblastic anemia has wide clinical & hematological spectrum. The most common symptoms observed were a generalized weakness (98%), easy fatigability (96%), anorexia (64%) which is nonspecific, so high degree of suspicion is required to diagnose megaloblastic anemia.

Megaloblastic Anemia—A Rare Cause

The Indian Journal of Pediatrics, 2011

A 2-year-old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B 12 , folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia.

Evaluation of clinical, biochemical and hematological parameters in macrocytic anemia

International Journal of Advances in Medicine, 2019

The term Macrocytosis refer to a blood condition in which Red Blood Cells (RBC) are larger than normal. Macrocytosis is defined in terms of Mean Corpuscular Volume (MCV). Normal MCV values range from 80 to 100 fl. MCV is calculated according to following formula MCV (fl) = Hemototrit (%) * 100 / RBC Count (10 6/ml) Macrocytosis can be identified by peripheral blood smear or by automated RBC indices. The incidence of detecting macrocytosis have increased and has varied from 1.7% to 3.6% in several reported series. 1 Compare to peripheral blood smear MCV may underestimate macrocytosis in over 30% of cases. 2,3 No complication arise from macrocytosis as isolated finding however if identification can provide important ABSTRACT Background: Macrocytosis can be seen in many hematological and non-hematological disorders and more than one cause may co-exist in an individual. Serum vitamin B12 and folic acid tests are routinely ordered but they are limited by their low sensitivity and specificity. This study is done to analyze the clinical, hematological and biochemical parameters in macrocytic anemia and to study the difference between megaloblastic and non-megaloblastic anemia in these parameters. Methods: There were 100 patients presenting with macrocytosis were taken in to study. A detailed clinical history and physical examination was done in all cases. CBC, biochemical investigations, peripheral blood examination, Vitamin B12, folate levels, bone marrow aspiration and reticulocyte count was done in all cases. Results: Primary bone marrow disorders were the most common cause of macrocytosis (45%). The other causes in decreasing order of frequency were megaloblastic anemia (36%), alcoholism and liver disease (15%), drug induced (2%) and idiopathic thrombocytopenic purpura (1%). There was a significant difference in the mean values of MCV and serum LDH between megaloblastic and non-megaloblastic macrocytosis. When serum LDH >1124.5IU/L or MCV>120.5fl (criterion values of ROC curve) with reticulocyte count <2% was taken as criteria, the sensitivity was 94.4% and specificity was 93% for diagnosing megaloblastic anemia. Conclusions: Systematic evaluation of macrocytosis will help us to distinguish megaloblastic and non-megaloblastic macrocytosis. The blood and biochemical parameters especially CBC, RC, and serum LDH along with supporting clinical features help us in diagnosing megaloblastic anemia in a setup where vitamin and metabolite levels are difficult to obtain.

Megaloblastic Anaemia with Morphological Changes in Megakaryocytes- a Prospective Study

Journal of Evidence Based Medicine and Healthcare, 2019

BACKGROUND Megaloblastic anaemia is a nutritional anaemia that results from inhibition of DNA synthesis during red blood cell production. Thrombocytopenia in a case of megaloblastic anaemia may result from many mechanisms such as: marrow hypoplasia (decreased megakaryocytes), ineffective thrombopoiesis (normal to increased megakaryocytes) and increased destruction of platelets (increased megakaryocytes). The objectives of this study were-1. to correlate clinicohaematological features in megaloblastic anaemia and bone marrow aspiration study of thrombocytopenia secondary to megaloblastic anaemia, hypoproduction and hyper-destruction 2. to understand the various megakaryocytic alterations in haematological disorders presenting with thrombocytopenia due to different mechanisms.

Megaloblastic anemia in a 9-weeks old infant

Journal of the Pakistan Medical Association

Megaloblastic anaemia due to vitamin B12 and folic acid deficiency is uncommon in infancy and rarely reported in infants below 3 months of age. We hereby report a case of megaloblastic anaemia in a 9-weeks old infant having fever from 7th week of life. Blood picture showed pancytopenia and diagnosis was confirmed on bone marrow biopsy and serum level of vitamins. Patient positively responded to vitamin B12 and folic acid supplementation. Infants with pancytopenia even younger than 2 months, should also be investigated for vitamin B12 and folate deficiency. Mother of the baby was not antenatally investigated for anaemia. Prompt antenatal diagnosis and treatment of mothers can reduce the incidence in the infants.