BACKGROUND Anemia is a common accompaniment of cerebral palsy, mental retardation and neurodegenerative disorders. CLINICAL CHARACTERISTICS A 4-year-old boy with chronic megaloblastic anemia, global developmental delay, seizures, intracranial calcification and new onset neuro-regression. OBSERVATION A diagnosis of hereditary folate malabsorption was made, and he was put on oral and injectab...

Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA.  This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....

BACKGROUND Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION We report a girl which presented with sensorineura...

Megaloblastic erythropoiesis is known to occur in patients with chronic hemolytic anaemia. It has been described in association with sickle cell anemia (Oliner and Heller 1959 ), thalassaemia (Robinson and Watson 1963 ), congenital spherocytosis ( Delamore et al. 1961), and acquired hemolytic anemia ( Forshaw and Harwood 1963). In a survey of the literature up to 1962, Robinson and Watson (1963...

By Fru rn mci A. Kur’sitm t m JoHN Li Er AUM S INCE THE INITIAL case reports in 1949,1,2 the occurrence of megaloblastic anemia as a complication of alcoholic cirrhosis has been reported with increasing frequency in recent years.314 Jarrold and Vilter reviewed the marrows of 30 patients with cirrhosis and found 3 to be megaloblastic.1 Krasnow et al. found the incidence of megaloblastic anemia i...

N ASSOCIATION BETWEEN megaloblastic anemia and therapy for tuberculosis has been described previously in five instances.1-3 In three patients megaloblastic erythropoiesis was associated with sideroblastic changes in the bone marrow,1’2 and in two the megaloblastic anemia was attributed .o deficiency of vitamin B12 resulting from malabsorption of this vitamin induced by therapy with para-amirios...

To elucidate the biochemical basis of megaloblastic hematopoiesis, the cellular content and metabolism of deoxyribonucleoside triphosphates (dNTPs) were investigated using the bone marrow cells from nine patients with untreated vitamin B12 deficiency and one with folic acid deficiency. The marked imbalance among four dNTPs was noted in all patients. dTTP was invariably elevated rather than depr...

Anemia is a common complication in malarial infection. Direct destruction and ineffective erythropoesis does not adequately explain the cause of anemia in malaria. We present a case with refractory megaloblastic anemia with asymptomatic falciparum malaria. We hypothesize that promoter variants in the inducible nitric oxide synthase gene might be the cause of severe refractory megaloblastic anem...