An inborn error of metabolism associated with mutations in the human methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene has been identified. The proband presented with SCID, megaloblastic anemia, and neurologic abnormalities, but the causal metabolic impairment is unknown. SCID has been associated with impaired purine nucleotide metabolism, whereas megaloblastic anemia has been associated ...

The DNA content of erythropoietic cells from 10 patients with refractory anaemia (RA) with megaloblastic changes, who subsequently developed acute non-lymphoblastic leukaemia (ANL), and from seven patients with megaloblastic marrow aspirates due to pernicious anaemia were compared by DNA image cytometry. The DNA distribution, the rate of aneuploid cells exceeding 5c (5cER), and the square devia...

Recently we have encountered an infant of formiminotransferase deficiency syndrome associated with megaloblastic pyridoxine responsive anemia of congenital origin.1 In 1966 Vitale et al.2 reported that formiminotransferase activity of the liver was markedly decreased in rats with iron deficiency and suggested a possibility of requirement of iron for function and/or formation of formiminotransfe...

A 72-year-old man with severe megaloblastic anaemia due to a benign duodeno-colic fistula originating from an antimesenteric duodenal diverticulum is described. Previous reports of fistulae from duodenal diverticula are reviewed.

A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.

Anemia is one of the most common health problems in primary care setting. Macrocytosis adults defined as a red blood cell mean corpuscular volum >95 fL. Macrocytic anemias are generally classified into megaloblastic or non-megaloblastic anemia. Retrospective descriptive study included 340 samples myelogram received Hematology Labortory belonging to patients admitted Military hospital Avicenn...