Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with failure to thrive, anorexia, vomiting and for the two olders refusal of weaning, associated with psychomotricity regression and hypotony. Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow. Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Cerebral imaging showed diffuse cortical atrophy. Cobalamin deficiency was caused by strict vegetarian diets mothers of breastfed infants (cases 2-3) and for younger by mother's unrecognized pernicious anemia. 3 mothers had no anemia and normal B12 's levels at diagnosis. Vitamin B12 supply lead to a rapid clinical and hematologic improvement. In two cases, neurologic recovery was incomplete. About one hundred case of B12 deficiency 's infant are reported, 2/3 are breast-fed by vegetarian mothers, and 1/4 have mothers with pernicious anemia. The failure to thrive is due to anorexia, refusal of weaning and partial villous atrophy. Neurologic manifestations are secondary to cerebral disorders, sometimes revealed by an exposure to anesthetic nitrous oxyd. The macrocytic anemia is inconstant. The etiologic research of developmental delay in an infant may include vitamin B12's deficiency, even if there is no haematologic signs, especially if breast-fedding 's mothers is vegetarian.
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PMID:[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. 1741 72

Cobalamin (vitamin B12) deficiency could be masked by lack of hematological abnormalities or by concomitant conditions associated with microcytosis such as iron deficiency and thalassemia traits. We examined blood and bone marrow morphology, serum ferritin and vitamin B12 levels and fasting gastric pH in nine patients who were suspected to have vitamin B12 deficiency with unusual manifestations. Two patients had neurological symptoms without any hematological abnormalities, two had thalassemia traits, and five had achlorhydria with severe iron and B12 deficiencies. Serum B12 was low in all cases, bone marrow was diagnostic in seven cases and peripheral blood showed hypersegmentation of neutrophils only in five cases. We conclude that vitamin B12 deficiency could be masked by lack of hematological changes or by concomitant causes of microcytosis and that serum vitamin B12 levels as well as other ancillary tests should be considered in all suspected cases.
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PMID:Unusual presentation of vitamin B12 deficiency. 1759 Jun 66