New insights on microcytic anaemia diagnosis

Key words: Anaemia, Microcytosis, Iron, Diagnosis

Microcytic anaemia is the most common form of anaemia, characterized by reduced MCV, often associated with hypochromia of red blood cells. Among the causes of microcytic anaemia, iron deficiency anaemia is the most common. The latest scientific discoveries have enabled to understand many of the rare forms of microcytic anaemia: in fact, the defect of some proteins involved in iron metabolism was found. Diagnosis of microcytic anaemia appears to be important in the child/adolescent, especially to set, where possible, a treatment plan on the basis of the etiology and pathogenesis. This diagnosis is simple and not expensive. In the differential diagnosis of microcytic anaemias the following has to be suspected in the first instance: 1) iron deficiency anaemia from malnutrition; 2) iron deficiency anaemia from inadequate iron absorption; 3) thalassaemia heterozygotes; 4) anaemia of chronic disease; 5) related deficits. The assessment of response to oral/parenteral treatment with iron is useful for the differential diagnosis. After excluding the most common causes, rare causes of anaemia, mostly hereditary, must be considered (namely anaemia with ectopic production of hepcidin, sideroblastic anaemias, porphyrias and anaemias from deficiency of genes of iron metabolism).