Diagnosing vitamin B-12 deficiency on the basis of serum B-12 assay

Case 1

A 59 year old white woman was seen urgently for assessment of a macrocytic anaemia. She had normal serum B-12 concentrations, confirmed on three occasions. She complained of progressively increasing lethargy, palpitations, and buzzing in the ears over about three months. She had a good, well balanced diet and was not a vegetarian. Apart from thyroxine, she was taking no regular medication. She said her father had had pernicious anaemia. On clinical examination the only clinically significant findings were a mild glossitis and pallor. A full blood count showed a substantial macrocytic anaemia and a mild reduction of the white cell count (figure). The blood film showed mild oval macrocytosis, occasional nucleated red cells, and some hypersegmented neutrophils. An urgent bone marrow examination showed megaloblastic haemopoiesis.

Laboratory results and bone marrow appearances for the cases presented. Case 1 shows a normal serum vitamin B-12 concentration with biochemical features of B-12 deficiency (raised homocysteine and methylmalonic acid). The haematology indices (macrocytic anaemia) and bone marrow appearances are consistent with megaloblastic anaemia caused by classic pernicious anaemia, confirmed by a positive anti-intrinsic factor antibody. Case 2 shows a markedly reduced serum vitamin B-12 concentration but largely …