A patient with microcytic hypochromic anemia. Hb9%, serum iron-20 micro/di, ferritin level-800mg/ ml, transferrin percentage saturation-64. What is possible diagnosis?
Ans. is 'a' i.e., Atransferrinemia Information provided in the question are :? i) Microcytic hypochromic anemia ift Low serum iron --> Normal (50-170 microgm/dl) iii) High serum ferritin Normal ( 30-400ng/m1) iv) High serum transferrin -4 Normal (30-50%) o In iron deficiency anemia, serum ferritin is low ( in question it is high) and in hemochromatosis, serum iron is increased (in question it is normal). So, option b and d are ruled out. o Now we are left with option a and c, both of which are genetic forms of iron deficiency anemia. Genetic forms of iron deficiency anemia o Iron deficiency anemia is an acquired disease. It is generally associated with low cost diet and bleeding. o Recent advances in iron metabolism led to the recognition of new entitities of iron deficiency anemia in non bleeding and "high cost diet" nourished individuals. These are known as genetic forms of iron deficiency anemia. o Apparently rare these genetic forms of iron deficiency anemia should be recognized by hematologists as they are refractory to classical oral or intravenous iron administration. GENETIC FORMS OF IRON DEFICIENCYANEMIA DMT 1 Mutation Atransferrinemia Glutaredoxin 5 Acceruloplasminemia Age at diagnosis At bih Late onset Midlife Late onset Anemia Microcytic Microcytic Microcytic Microcytic hypochromic Hypochromic hypochromic hypochromic Serum iron High Low High Low Transferrin saturation High High or Non-measurable High Low Serum ferritin Low or normal High High High Ferritin Ringed sideroblasts No No Yes No Liver iron obverload Yes Yes Yes Yes Brain damage No No No Yes Hepcidin levels Low Not yet measured Not yet measured Not yet measured Coming back to the question o The serum iron indices of the patient match those of Atransferrinemia i.e., low serum iron, increased serum ferritin, increased transferrin saturation. o DMT 1 can be ruled out as it has low ferritin level and high iron level.
Atransferrinemia
Iron deficiency anemia
DMT 1 mutation
Hemochromatosis