Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient and normal in the other; in both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and the insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and an increase in insulin requirements. We propose that an inherited abnormality of thiamine metabolism is responsible for the multisystem degenerative disorder known as DIDMOAD syndrome.
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PMID:Thiamine-responsive anemia in DIDMOAD syndrome. 280 20

A 34-year old woman developed megaloblastic anemia and peripheral polyneuropathy following the use of oral contraceptives (OCs) for 4 years. Low levels of folic acid and vitamin B12 were found. Both the complete recovery after therapy with the vitamins and the absence of other causes of vitamin B12 and folate deficiency suggest that these were caused by OCs and resulted in the rare combination of megaloblastic anemia and polyneuropathy. The poor response to vitamin B12 alone, and the development of anemia and polyneuropathy 4 months after cessation of vitamin B12 therapy suggest that folate deficiency was the primary problem.
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PMID:Folic acid deficiency, megaloblastic anemia and peripheral polyneuropathy due to oral contraceptives. 254 Jan 15

True vitamin B12/folate deficiency is more common than is currently appreciated; it appears in many guises and the classic hematological features of megaloblastic anaemia are often absent. The single most reliable predictor of megaloblastic anaemia is serum vitamin B12/folate concentration, but this determination in a screening program for all patients is difficult in terms of laboratory overload and cost. Early recognition of nutritional anaemias is, however, mandatory and we undertook this study to explore the possibility of identifying, on a demographic basis or because of routine laboratory results, a group of subjects at risk for vitamin B12/folate deficiency. Results obtained in simultaneous radioassay of serum B12 and folate levels and erythrocyte folate concentration in 1.200 hospitalized patients are presented. Coexisting iron deficiency was excluded by ferritin assay. We found no significant difference between males and females and no correlation between serum folate and B12 concentrations and aging. Low serum folic and cobalamin levels were found in 53% of patients with macrocytosis and elevated MCH, even in the absence of anaemia. These observations suggest that increased MCV and MCH may be present before a related anaemia and that serum folate and cobalamin levels must be monitored early in these patients to prevent a deficiency.
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PMID:[Folate and vitamin B12 deficiency. Characterization of parameters for early diagnosis]. 260 38

A case of congenital dyserythropoietic anaemia presented with recurrent jaundice and painful splenomegaly. There was binuclearity, internuclear chromatin bridges, megaloblastic changes in erythrocyte precursors and positive acidified serum test with normal serum.
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PMID:Congenital dyserythropoietic anaemia. 239 25

Megaloblastic anaemia is very rare in the first weeks of life and it is related to impaired metabolism of folic acid or vitamin B12. One of this disorders is the congenital transcobalamin II deficiency. The case of a three month old infant, with vomiting, diarrhoea and severe anaemia is presented. Both parents and the child had very low or undetectable levels of serum TC II, respectively. Using i.m. hydroxycobalamin at high doses, the clinical and laboratory responses have been satisfactory.
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PMID:[Megaloblastic anemia caused by a congenital deficiency of transcobalamin II. Apropos of a new case]. 261 85

We have analysed 139 consecutive cases (71 males and 68 females) of nutritional megaloblastic anaemia over a period of four and a half years. The majority of these patients belonged to the low socio-economic class and many of them were strict vegetarians. Sixty one percent were in the second and third decades of life. At the time of presentation, 46% had mild hepatomegaly, 42% fever, 34% mild splenomegaly and 20% bleeding manifestations. Of 102 cases in whom the biochemical parameters were available, vitamin B12 deficiency was detected in 76%, folate deficiency in 6.8%, combined B12 and folate deficiency in 8.8%; the remaining 7.8% had normal vitamin levels at presentation. All 139 patients had severe anaemia, 80.5% had thrombocytopenia and 43.8% had neutropenia as well as thrombocytopenia. It appears that during progression (in terms of duration) of megaloblastosis, anaemia is followed by thrombocytopenia and then neutropenia. Infection and bleeding in these patients may be aggravated by impaired functions of neutrophils and platelets, respectively.
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PMID:Pancytopenia in nutritional megaloblastic anaemia. A study from north-west India. 263 48

The laboratory findings of 20 patients with untreated megaloblastic anemia due to vitamin B12 deficiency were analysed. The material consists of 13 patients with pernicious anemia, 6 with postgastrectomy B12 deficiency and one with malabsorption syndrome. Hematological data (RBC, Hgb, Ht, WBC, Plt) were correlated with each other and serum LDH levels. Megaloblastic changes of bone marrow were apparent in cases of which Hgb values were below 9 g/dl, although its change were not clear in cases with mild anemia (above 9 g/dl). However, giant metamyelocytic changes of bone marrow were seen even in cases with mild anemia. Serum B12 levels in 6 out of 19 cases (31.6%) measured by clinical laboratory center were within normal range. In contrast, its level in all cases measured by radiodilution assay using R-protein or intrinsic factor were lower than normal values. Serum B12 levels measured by the latter method were correlated with various hematological data and also related with hematological severity, although its level measured by clinical laboratory did not have any correlation with hematological data. Schilling test seemed to be unreliable, because sample volume which was suggested by kit manual was too small (2 ml) to catch enough radioactivity for accurate measurement. Serum methylmalonic acid levels measured by gas capillary mass spectrophotometry were higher than normal values in all cases and were well correlated with hematological data.
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PMID:[Assessment of laboratory findings in megaloblastic anemia--measurement of serum vitamin B12 and methylmalonic acid]. 265 48

A new case of acquired von Willebrand syndrome (AvWS) with Hashitoxicosis and pernicious anemia combined in a 73-years-old male is reported. He was admitted because of appetite loss and general malaise. Physical examination showed severe anemia and general edema. The red-cell count was 103 X 10(4)/microliters with a MCV of 122 fl; the white-cell count was 2,900/microliters with 24.5% hypersegmented neutrophils; the platelet count was 17.2 X 10(4)/microliters. the lactate dehydrogenase was 9,513 U/ml and vitamin B12 was 87 pg/dl. An aspirated specimen of bone marrow was diagnostic of megaloblastic anemia. The thyroid hormones were decreased with the thyroid stimulating hormone increased. From the immunological findings, the thyroid-test, microsome-test, and anti-intrinsic factor were positive, but M proteinemia and Bence Jones proteinuria were absent. Histology of the thyroid gland and the gastric mucosa established the diagnosis of chronic thyroiditis and chronic atrophic gastritis. Subcutaneous hemorrhages after veni-puncture were observed on admission. He had a normal bleeding time, but the coagulation studies indicated the presence of von Willebrand disease, but as his family and past history were negative, this suggested the presence of an AvWS. The analysis of von Willebrand factor (vWF) multimeric composition had showed the lack of the larger multimers in the plasma, but it was normalized after the administration of levothyroxine sodium and hydroxocobalamin with vWF: Ag/RCo ratio paralleled. As far as we know, this is the first report of AvWS with Hashitoxicosis and pernicious anemia combined.
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PMID:[Acquired von Willebrand syndrome associated with Hashitoxicosis and pernicious anemia combined]. 267 35

Functional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the first 2 years of life, but one patient came to medical attention at age 21 years with symptoms initially diagnosed as multiple sclerosis. Common findings among 11 patients (4 with cblE and 7 with cblG) have included megaloblastic anemia (all patients) and various neurological deficits including developmental retardation (10 patients), cerebral atrophy (8 patients), hypotonia (7 patients), EEG abnormalities (6 patients), and nystagmus (5 patients). Hypertonia, seizures, blindness, and ataxia were less frequent. All patients have responded to therapy with cobalamin with resolution of anemia and biochemical abnormalities; neurological deficits resolved more slowly and in some cases incompletely. Hydroxycobalamin has been more effective than cyanocobalamin. Fibroblasts from patients with cblE (5 patients) and cblG (6 patients) all showed decreased intracellular levels of methylcobalamin (MeCbl) and decreased incorporation of label from 5-methyltetrahydrofolate into macromolecules, suggesting decreased activity of the MeCbl-dependent enzyme methionine synthase. Methionine synthase specific activity in extracts of all cblE fibroblasts was normal or near-normal under standard reducing conditions; synthase specific activity in extracts of 5 cblG patients was low but was high in a 6th patient measured in another laboratory. Thus, there is heterogeneity among patients with functional methionine synthase deficiency both in clinical presentation and in the results of biochemical studies of cultured cells.
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PMID:Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. 268 21

The case of a young girl, born to a woman who was a vegetarian for 18 years, is presented. She had been exclusively breast-fed until the age of 6 months when a severe anemia was discovered with an extremely low hemoglobin level (1.9 g/100 ml). Her physical growth and psychomotor development had been normal until 3 months of age. Bone marrow showed megaloblastosis and the serum B12 level was low (45 ng/l). B12 levels were also decreased in both parents (110 and 105 ng/l) and in the mother's milk (12 ng/l). Treatment with parenteral B12 was successful. The importance of a careful dietetic inquiry in the case of an infant with megaloblastic anemia is stressed and likewise, as a preventive measure during all normal pregnancies.
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PMID:[Severe megaloblastic anemia in 6-month-old girl breast-fed by a vegetarian mother]. 273 8


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