A patient with microcytic hypochromic anemia, Hb-9%, serum iron is 20 p/dl, ferritin level 800 mg/ml, transferrin percentage saturation is 64. What is possible diagnosis -
Ans. is 'a' i.e., Atransferrinemia [Ref: www.ironcurriculum.esh.org/activity/1848pdfi* Derangement in serum iron indices mentioned in the question: -Microcytic hypochromic anemia Low serum iron - Normal (50-170 mg/dl) High serum ferritin - Normal (30-400 ng/ml)High serum transferrin - Normal (30-50%)Let's look at the options first Iron deficiency anemiaCan be easily ruled out as serum ferritin is low in Iron deficiency anemia.HemochromatosisHemochromatosis is characterized by increased serum iron levelSo, we are left with two optionsAtransferrinemia and DMT1 mutationThese 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 anemiaIron 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 entities of iron deficiency anemia in non bleeding and "high cost diet" nourished individuals. These are known as genetic forms 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 includesMutations in gene encoding DMT1Mutations in gene encoding glutaredoxin 5.Hypotransferrinemia or AtransferrinemiaDeficiency of ceruloplasminIRIDA (Iron Recractory, Iron Deficiency Anemia)Genetic forms of Iron deficiency anemia DMT1 MutationAtransferrinemiaGlutaredoxin 5AceruloplasminemiaAge at diagnosisAt birthLate onsetMidlifeLate onsetAnemiaMicrocytic hypochromicMicrocytic hypochromicMicrocytic hypochromicMicrocytic hypochromicSerum ironHighLowHighLowTransferrin saturationHighHigh or non measurableHighLowSerum ferritinLow or normal ferritinHighHighHighRinged sideroblastsNoNoYesNoLiver iron overloadYesYesYesYesBrain damageNoNoNoYesHepcidin levelsLowNot yet measuredNot yet measuredNot yet measuredComing back to the questionThe serum iron indices of the patient match those of Atransferrinemia i.e., low serum iron increased serum ferritin, increased transferring saturation.DMT1 can be ruled out as it has low ferritin level and high iron level.AtransferrinemiaTransferrin 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.DMT1 mutationDMT1 is a transmembrane protein involved in dietary nonheme iron uptake at the brush border of duodenal enterocytes and also plays crucial role in iron utilization at the endo somal 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.
Atransferrinemia
Iron deficiency anemia
DMT 1 mutation
Hemochromatosis
Blood