Patients with iron-refractory iron deficiency anemia have anemia that does not respond to oral iron therapy, but is partially responsive to parenteral iron administration. The main features include: congenital hypochromic, microcytic anemia; very low mean corpuscular erythrocyte level; low transferrin saturation; abnormal iron absorption marked by no hematological improvement following treatment with oral iron; and abnormal iron utilization marked by delayed, incomplete response to parenteral iron. This condition is inherited in an autosomal recessive manner. This laboratory performs Sanger sequencing of the TMPRSS6 gene.
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