Home  About us  Contact
 

Megaloblastic Anaemia (megaloblastic + anaemia)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C,G

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 1 2006
Daniel P. Gale
Abstract:, We present a case of intracellular vitamin B12 deficiency presenting with confusion, subacute combined degeneration of the cord, megaloblastic anaemia and intrinsic factor antibodies in the serum. Diagnosis was delayed by a normal serum B12 level and was confirmed by a grossly elevated serum homocysteine. There was a dramatic response to steroids. The patient was heterozygous for the transcobalamin (TC) II polymorphism 776C,G. This case demonstrates the importance of functional assessment of intracellular B12 activity (e.g. serum homocysteine) in excluding B12 deficiency, the role of steroids in pernicious anaemia and a possible clinical correlation of a TCII polymorphism. [source]

Diagnostic clues to megaloblastic anaemia without macrocytosis

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 3 2007
C. W. J. CHAN
Summary Masking of the macrocytic expression of megaloblastic anaemia (MA) by coexisting thalassaemia, iron deficiency and chronic illness has been widely reported. We described the haematological and clinical features of 20 Chinese patients with MA presenting with mean corpuscular volume (MCV) ,99 fl, and analysed the steps leading to the final diagnosis of MA with concomitant thalassaemia trait (n = 11), thalassaemia trait and iron deficiency (n = 3), iron deficiency (n = 4) and chronic illness (n = 2). We also compared the haematological characteristics of this group of patients with a group of normocytic anaemic patients without vitamin B12/folate deficiency, and identified certain laboratory information useful for differentiating the two groups. Statistically significant parameters included the mean values of haemoglobin, MCV, red cell distribution width (RDW), reticulocyte index, platelet count and serum bilirubin. All provided clues to maturation disorders within the marrow. A decision flowchart for the diagnosis of MA without macrocytosis was proposed. In the studied population, by using the parameters of haemoglobin <10 g/dl, MCV 80,99 fl, RDW , 16% and reticulocyte index , 2% as indicators, there was a 58% chance that a patient had MA without macrocytosis if he/she had all the four indicators, and a 2.2% chance of having it if he/she did not have these indicators. We emphasized the importance of including peripheral blood smear examination in the diagnostic procedures for such patients, as well as the importance of paying attention to patients' medical history, racial background and previous MCV value. [source]

Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood

PEDIATRIC DIABETES, Issue 4 2007
Birthe S Olsen
Abstract:, Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive condition, characterized by megaloblastic anaemia, non-autoimmune diabetes mellitus, and sensorineural hearing loss. We describe three infants with TRMA from two consanguineous Pakistani families, who were not known to be related but originated from the same area in Pakistan. All children were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter. The result is an abnormal thiamine transportation and vitamin deficiency in the cells. Thiamine in high doses (100,200 mg/d) reversed the anaemia in all our patients. Two patients discontinued insulin treatment successfully after a short period, while the third patient had to continue with insulin. The hearing loss persisted in all three children. The diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild and, particularly, in the case of consanguinity. [source]

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site

BRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2003
Fares Namour
Summary., Transcobalamin (TC), a vitamin B12 (cobalamin, Cbl) binding protein in plasma, promotes the cellular uptake of the vitamin by receptor-mediated endocytosis. Inherited TC deficiency is an autosomal recessive disorder characterized by megaloblastic anaemia caused by cellular vitamin B12 depletion. It may be accompanied by neurological complications, including a delay in psychomotor and mental development. This report describes three sisters with inherited TC deficiency resulting from a splicing defect in the TC gene. A point mutation was identified in intron 3 splice site of the TC gene that activates a cryptic splice site in exon 3. The transcript generated has an in-frame deletion of 81 nucleotides and the resulting truncated protein is unstable and not secreted by the cells. Until now, genetic studies have been reported in only five patients with TC deficiency and the molecular defect was different in each of them, which gives evidence for a genetic heterogeneity of the disease. [source]

Cough mixture abuse as a novel cause of megaloblastic anaemia and peripheral neuropathy

BRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2003
W. Y. Au
No abstract is available for this article. [source]

Clinical manifestations of infants with nutritional vitamin B12 deficiency due to maternal dietary deficiency

ACTA PAEDIATRICA, Issue 1 2009
E Zengin
Abstract Aim: In developing countries, nutritional vitamin B12 deficiency in infants due to maternal diet without adequate protein of animal origin has some characteristic clinical features. In this study, haematological, neurological and gastrointestinal characteristics of nutritional vitamin B12 deficiency are presented. Methods: Hospital records of 27 infants diagnosed in a paediatric haematology unit between 2000 and 2008 were evaluated retrospectively. Results: The median age at diagnosis was 10.5 months (3,24 months). All the infants were exclusively breast fed and they presented with severe nonspecific manifestations, such as weakness, failure to thrive, refusal to wean, vomiting, developmental delay, irritability and tremor in addition to megaloblastic anaemia. The diagnosis was confirmed by complete blood counts, blood and marrow smears and serum vitamin B12 and folic acid levels. The median haemoglobin level was 6.4 g/dL (3.1,10.6) and mean corpuscular volume (MCV) was 96.8 fL (73,112.3). Some patients also had thrombocytopaenia and neutropaenia. All the infants showed clinical and haematological improvement with vitamin B12 administration. Patients with severe anaemia causing heart failure received packed red blood cell transfusions as the initial therapy. Conclusion: Paediatricians must consider nutritional vitamin B12 deficiency due to maternal dietary deficiency in the differential diagnosis of some gastrointestinal, haematological, developmental and neurological disorders of infants with poor socioeconomic status. Delay in diagnosis may cause irreversible neurological damage. [source]