Test Background

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.

Gene(s)