Atransferinemia Derangment in serum iron indices mentioned in the question : ? Microcytic hypochromic anemia Low serum iron - Normal (50-170 ,ug/dI) High serum. ferritin Normal (30-400 ng/ml) High serum transferrin Normal (30-50%) Let's look at the options first Iron deficiency anemia Can be easily ruled out as serum ferritin is low in Iron deficiency anemia. Hemochromatosis Hemochromato.sis is characterized by increased serum iron level. So, we are left with two options - Atransferinemia and DMT1 mutation These are classified in genetic forms of iron deficiency anemia. - Here is a brief discussion on genetic, forms of iron deficiency anemia. Genetic forms of Iron deficiency anemia -Iron deficiency anemia is an acquired disease. It is generally associated with low cost diet and bleeding. - Recent advances in iron metabolism led to the recognition of new entices of iron deficiency anemia in nonbleeding and "high cost diet" nourished individuals. These are known as genetic ,fonns of iron deficiency anemia. - 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. These includes - Mutations in gene encoding DMT1 - Mutations in gene encoding glutaredoxin 5. - Hypotransferrinemia or Atransferriemia - Deficiency of ceruloplasmin - IRIDA (Iron Recractory, Iron Deficiency Anemia) Genetic forms of Iron deficiency anemia DMT1 Mutation Atransferrinemia Glutaredoxin 5 Aceruloplasminemia Age at diagnosis At bih Late onset Midlife Laic onset Anemia Microcytic hypochromic Microcytic hypochromic Microcytic hypochromic Microctic hypochromic Serum iron High Low High Low Transferrin saturation High High or non measurable High Low Serum ferritin Low or normal fen-itin High High High ,o Ringed sideroblasts No No Yes No Liver iron overload Yes Yes Yes Yes Brain damage No No No Yes Hepcidin levels Low et Not y measured Not yet measured Not yet measured Coming back to the question The serum iron indices of the patient match those of Atransferrinemia i.e., low serum iron increased serum ferritn, increased transferring saturation. DMT1 can be ruled out as it has low ferritin level and high iron level. Atransferrinemia Transferrin is an iron carrying protein that transmits iron to the erythroblasts. Atransferrinemia or hypotransferrinemia results in reduced delivery of iron to erythroblasts and development of iron deficient anemia. This leads to massive but .futile iron absorption. The increased iron that is absorbed is not carried to the erythroid cell, instead. it is deposited elsewhere outside of erythroblasts. Iron is deposited in the visceral organs rather than in the bone marrow. DMT Lmutation DMT1 is a tran.smembrane protein involved in dietary nonheme iron uptake at the brush border of duodenal enterocytes and also plays crucial role in iron utilization at the endosomal membrane of the erythroid precursors. In DMT1 mutation the iron absorption in the duodenum continues because the absorption of heme iron is not affected. The mutation primarily affects iron utilization and not absorption. Iron utilization in erythroid precursors is disturbed leading to severe iron deficiency anemia.