hydroxocobalamin and Anemia--Macrocytic

Topics: Adult; Aged; Alcoholism; Anemia, Macrocytic; Female; Folic Acid; Folic Acid Deficiency; Humans; Hydroxocobalamin; Hypothyroidism; Infant, Newborn; Liver Failure; Male; Pregnancy; Risk Factors; Time Factors; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia, Aplastic; Anemia, Hypochromic; Anemia, Macrocytic; Antibodies, Anti-Idiotypic; Antineoplastic Agents; Blood Transfusion; Child; Disseminated Intravascular Coagulation; Erythroblastosis, Fetal; Female; Folic Acid; Hematologic Diseases; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Iron; Leukemia; Multiple Myeloma; Polycythemia Vera; Pregnancy; Purpura, Thrombocytopenic; Thrombosis

Topics: Anemia; Anemia, Aplastic; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Pernicious; Anemia, Sideroblastic; Ascorbic Acid Deficiency; Avitaminosis; Blood Protein Disorders; Hormones; Humans; Hydroxocobalamin; Vitamins

Functional methionine synthase reductase deficiency, also known as cobalamin E disorder, is a rare autosomal recessive inherited disease that results in an impaired remethylation of homocysteine to methionine. It presents with macrocytic anemia, hyperhomocysteinemia, and hypomethioninemia, and may also be accompanied with neurological impairment.. We describe two new cases of unrelated girls with megaloblastic anemia misclassified at first as congenital dyserythropoietic anemia with development of neurologic dysfunction in one of them.. The posterior finding of biochemical features (hyperhomocysteinemia and hypomethioninemia) focused the diagnosis on the inborn errors of intracellular vitamin B12. Subsequent molecular analysis of the methionine synthase reductase (MTRR) gene revealed compound heterozygosity for a transition c.1361C > T (p.Ser454Leu) and another, not yet described in literature, c.1677-1G > A (p.Glu560fs) in one patient, and a single homozygosis mutation, c.1361C > T (p.Ser545Leu) in the other one. These mutations confirmed the diagnosis of cobalamin E deficiency.. Treatment with hydroxocobalamin in combination with betaine appears to be useful for hematological improvement and prevention of brain disabilities in CblE-affected patients. Our study widens the clinical, molecular, metabolic, and cytological knowledge of deficiency MTRR enzyme.

Topics: Adult; Amino Acid Substitution; Anemia, Macrocytic; Betaine; Child; Female; Ferredoxin-NADP Reductase; Humans; Hydroxocobalamin; Hyperhomocysteinemia; Metabolism, Inborn Errors; Mutation, Missense

The aim of this study is to examine retrospectively the clinical, biological and treatment features of anemia by vitamin B12 deficiency in the Hematology department of CHU Mohamed VI Marrakech. We report the results of a retrospective study conducted during six years (2005-2010). It included all patients with anemia (with or without thrombocytopenia or leukopenia) associated with vitamin B12 levels <200 pg / ml. One hundred twenty one cases were analyzed. The average age of patients was 62 years (38-89 years) with a female predominance (sex ratio F/M: 1.3). The clinical symptomatology is dominated by pallor (97.5%), cardiovascular signs (46%) and digestive symptoms (34.7%). Neurological signs were noted in 17.3% of cases. The blood count showed anemia (hemoglobin: mean= 6.9 g/dl), macrocythemia (MCV: mean= 109 fl). Leukopenia was noted in 35 patients (29%), thrombocytopenia in 34 patients (28%) and pancytopenia in 21 patients (17,3%). The average vitamin B12 was 72 pg/ml. The causes of B12 deficiency are pernicious anemia (43%), food-cobalamin malabsorption (43%), and in 14% of cases no etiology was found. Gastritis was found in 82.7% of our patients and Helicobacter pylori (HP) infection in 72.7% of cases. Reticulocyte crisis was observed after parenteral administration of hydroxocobalamine within an average of 8 days and normalization of blood counts, in all patients, within an average of 51 days. In patients with HP infection, eradication therapy of HP was performed. The cure rate of the HP is 90%.

Topics: Adult; Aged; Aged, 80 and over; Anemia, Macrocytic; Anemia, Pernicious; Comorbidity; Diabetes Mellitus, Type 2; Female; Gastritis; Helicobacter Infections; Hematology; Hospital Departments; Humans; Hydroxocobalamin; Male; Middle Aged; Morocco; Postgastrectomy Syndromes; Retrospective Studies; Symptom Assessment; Vitamin B 12 Deficiency; Vitiligo

Topics: Administration, Oral; Aged; Anemia, Macrocytic; Cyanides; Drug Hypersensitivity; Female; Humans; Hydroxocobalamin; Infusions, Parenteral; Injections, Intramuscular; Vitamin B 12; Vitamin B 12 Deficiency

Topics: ABO Blood-Group System; Administration, Oral; Aged; Anemia, Macrocytic; Anemia, Pernicious; Antibody Specificity; Autoantibodies; Autoimmune Diseases; Diabetes Mellitus, Type 1; Female; Glutamate Decarboxylase; Humans; Hydroxocobalamin; Insulin; Intrinsic Factor; Iodide Peroxidase; Purpura, Thrombocytopenic, Idiopathic; Thyroglobulin

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Humans; Hydroxocobalamin; Infant, Newborn; Male; Transcobalamins

Lymphocyte subpopulations and intrinsic factor and gastric parietal cell antibodies have been measured in 23 patients with megaloblastic anaemia who responded to treatment with hydroxocobalamin. The ratio of helper (OKT4) to suppressor (OKT8) lymphocytes was significantly increased in patients with intrinsic factor antibody compared with those who lacked the antibody. No such correlation was found for gastric parietal cell antibody. Alterations in the lymphocyte helper to suppressor (OKT4:OKT8) ratio may be associated with pernicious anaemia.

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Antibodies, Monoclonal; Autoantibodies; Humans; Hydroxocobalamin; Intrinsic Factor; Leukocyte Count; Lymphocytes; Parietal Cells, Gastric; T-Lymphocytes, Helper-Inducer; T-Lymphocytes, Regulatory

We describe an inborn error of vitamin B12 metabolism in an infant who had severe developmental delay, megaloblastic anemia, and homocystinuria. There was no evidence of methylmalonic aciduria or deficiency of folate or vitamin B12. Treatment with hydroxocobalamin, but not with cyanocobalamin and folic acid, resulted in rapid clinical and biochemical improvement. Cultured fibroblasts showed an absolute growth requirement for methionine, defective incorporation of radioactivity from [14C]5-methyltetrahydrofolate into protein, and normal incorporation of radioactivity from [14C]propionate, thus assigning the intracellular defect to methionine synthesis. The proportion of intracellular methylcobalamin in the fibroblasts was decreased, but that of 5'-deoxyadenosylcobalamin was normal. Methionine synthetase activity in cell extracts was normal, as was cobalamin incorporation into cultured cells. This defect differs from those described previously in being limited to methylcobalamin accumulation and defective use of 5-methyltetrahydrofolate by intact cells with normal activity of methylmalonyl CoA mutase.

Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Anemia, Megaloblastic; Cobamides; Fibroblasts; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Male; Methionine; Propionates; Tetrahydrofolates; Vitamin B 12

The activities of 5-methyltetrahydrofolate (5-CH3THF) related enzymes and DNA polymerase alpha were determined in bone marrow cells obtained from patients with vitamin B12 deficient megaloblastic anemia and compared with those from healthy volunteers and patients with hemolytic anemia. 5-CH3THF homocysteine methyltransferase activity was significantly lower than that in the control subjects. 5,10-methylenetetrahydrofolate reductase activity was only slightly elevated to that in the control subjects. DNA polymerase alpha activity was significantly higher than that in the control. High deoxyuridine suppression test values in vitamin B12 deficient bone marrow cells were improved by tetrahydrofolate, but not by 5-CH3THF. These data indicate that, even though the reverse reaction catalyzed by 5,10-methylenetetrahydrofolate reductase may be operative in vitamin B12 deficiency, it is not sufficient to correct the disturbance in folate metabolism in vitamin B12 deficiency. Increased DNA polymerase alpha activity may be due to compensation for disarranged DNA synthesis.

Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Adult; Aged; Alcohol Oxidoreductases; Anemia, Macrocytic; Anemia, Megaloblastic; Bone Marrow; Bone Marrow Cells; Deoxyuridine; DNA Polymerase II; DNA-Directed DNA Polymerase; Female; Folic Acid; Humans; Hydroxocobalamin; Leucovorin; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Tetrahydrofolates; Thymidine; Vitamin B 12; Vitamin B 12 Deficiency

A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the limbs. Following treatment with hydroxocobalamin, his condition has slowly improved but he has remained with a severe neurological deficit. The consequences of vitamin B12 deficiency on neurological development in infancy are discussed.

Topics: Age Factors; Anemia, Macrocytic; Anemia, Megaloblastic; Blood Proteins; Child; Genes, Recessive; Humans; Hydroxocobalamin; Intellectual Disability; Male; Nervous System Diseases; Transcobalamins; Vitamin B 12 Deficiency

Topics: Aged; Aminosalicylic Acid; Anemia, Macrocytic; Anemia, Megaloblastic; Anticonvulsants; Antineoplastic Agents; Colchicine; Humans; Hydroxocobalamin; Intestinal Absorption; Neomycin; Stomach Neoplasms; Vitamin B 12; Vitamin B 12 Deficiency

The return of the MCV to normal after treatment in megaloblastic anaemia follows a biphasic pattern. The initial more rapid decline in MCV is due to disappearance of pretreatment macrocytes from the circulation and the rate of fall is determined by their mean cell life. The second slower component is probably due to a mixture of pretreatment macrocytes and new macrocytes, the result of a young red cell population. The MCV often returned to normal most rapidly in the most severely megaloblastic patients due to a very short mean red cell life span. However, there was no significant correlation between either initial MCV or red cell count and the time after treatment for a return of a normal MCV.

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Erythrocytes, Abnormal; Folic Acid; Humans; Hydroxocobalamin; Time Factors; Vitamin B 12

Topics: Adolescent; Adult; Anemia, Macrocytic; Anemia, Pernicious; Carbonic Anhydrases; Electrophoresis; Erythrocytes; Female; Folic Acid Deficiency; Humans; Hydroxocobalamin; Isoenzymes; Male; Middle Aged; Spectrophotometry; Time Factors; Vitamin B 12 Deficiency

Topics: Anemia, Macrocytic; Anemia, Pernicious; Blood Cell Count; Diet, Vegetarian; Drug-Related Side Effects and Adverse Reactions; Folic Acid; Folic Acid Deficiency; Humans; Hydroxocobalamin; Intestinal Diseases; Potassium; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adolescent; Adult; Anemia, Macrocytic; Female; Humans; Hydroxocobalamin; Vitamin B 12

Topics: Aged; Anemia, Macrocytic; Anemia, Pernicious; Erythrocyte Count; Gastrectomy; Humans; Hydroxocobalamin; Middle Aged

Topics: Anemia; Anemia, Macrocytic; Cobalt Isotopes; Drug Therapy; Fluids and Secretions; Humans; Hydroxocobalamin; Metabolism; Urine; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia; Anemia, Macrocytic; Drug Therapy; Humans; Hydroxocobalamin

Topics: Anemia; Anemia, Macrocytic; Anemia, Pernicious; Diabetic Neuropathies; Hematinics; Humans; Hydrogen Cyanide; Hydroxocobalamin; Neuritis; Vitamin B 12; Vitamin B Complex

Topics: Anemia, Macrocytic; Anemia, Pernicious; Humans; Hydroxocobalamin; Meningoencephalitis; Neuritis; Pellagra; Postgastrectomy Syndromes; Spinal Cord; Spinal Cord Diseases; Spinal Cord Neoplasms; Vitamin B 12; Vitamin B Complex