The primary defective iron reutilization syndrome involves a microcytic, hypochromic anemia resistant to iron replacement occurring in a patient with no evidence of anemia of chronic disease or other hematologic disorder.
Patient characteristics:
(1) typically post-menopausal women
(2) responds to testosterone.
Criteria for primary defective iron reutilization:
(1) hypochromic microcytic anemia
(1a) hemoglobin < 120 g/L
(1b) MCV < 82 femtoliters
(1c) MCH < 27 pg/cell
(2) decreased serum iron studies
(2a) reduced serum iron
(2b) total iron binding capacity (TIBC) low or normal
(2c) iron saturation < 20%
(3) increased iron stores
(3a) serum ferritin levels > 30 µg/L
(3b) abundant bone marrow iron without ringed sideroblasts
(4) normal hemoglobin electropheresis (with hemoglobin A2 < 3.5%) with no evidence of thalassemia
(5) normal lead level
(6) absence of a primary inflammatory or malignant disease
(7) no response to prolonged (3 –6 months) oral iron replacement
where:
• The reference gives the iron in mol/L. The SIU is µmol/L.
• The reference gives a reduced serum iron as < 5.4 µmol/L. I have used < 9 µmol/L in the spreadsheet.
• The reference gives serum ferritin in g/L. The SIU units are µg/L.
Findings on erythrokinetics are similar to that seen in anemia of chronic disease:
(1) normal plasma iron turnover
(2) normal red blood cell iron utilization
(3) poor red blood cell iron reutilization
(4) poor iron absorption
Treatment: Patients have responded with danazol, an isoxazole derivative of 17-alpha ethinyl testosterone, given in a dose of 200 mg once a week.
