Sorted By Test Name - Mayo Medical Laboratories

FECHS
60371
decreased serum ferritin value is quite common among menstruating and reproductively active females
and in children. Ferritin is an acute phase reactant. A normal serum ferritin value, therefore, cannot be
used to exclude iron deficiency if a hepatic, malignant, or inflammatory condition is present. A high
serum ferritin value is seen in hemochromatosis and other iron-overload states, as well as acute hepatitis,
Gaucher disease, malignancies, and chronic inflammatory disorders.
Useful For: Diagnosing iron deficiency and iron-overload conditions
Interpretation: Hereditary hemochromatosis or other iron-overload states, acute hepatitis, and
Gaucher disease are associated with very high serum ferritin levels. Slight-to-moderate elevation occurs in
many malignancies and in chronic inflammatory disorders. Iron deficiency (uncomplicated) Males: 307 mcg/L In hemochromatosis,
ferritin is often >1,000 mcg/L For more information about hereditary hemochromatosis testing, see
Hereditary Hemochromatosis Algorithm in Special Instructions.
Reference Values:
Males: 24-336 mcg/L
Females: 11-307 mcg/L
Clinical References: 1. Fairbanks VF, Beutler E: Iron Metabolism. In Williams Hematology. Edited
by E Beutler, MA Lichtman, BS Coller, et al. New York. McGraw-Hill Book Company, 2001, pp
295-304 2. Fairbanks VF, Brandhagen DJ: Disorders of iron storage and transport. In Williams
Hematology. Edited by E Beutler, MA Lichtman, BS Coller, et al. New York. McGraw-Hill Book
Company, 2001, pp 489-502 3. Brugnara C: Iron deficiency and erythropoiesis: new diagnostic
approaches. Clin Chem 2003 Oct;49(10):1573-1578 4. Schilsky ML, Fink S: Inherited metabolic liver
disease. Curr Opin Gastroenterol 2006 May;22(3):21
Ferrochelatase (FECH) Gene, Full Gene Analysis
Clinical Information: Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin
metabolism whose clinical manifestations include painful photodermatosis without blisters and liver
disease. The disorder results from decreased activity of the enzyme ferrochelatase (FECH). FECH is the
last of 8 enzymes acting sequentially in the heme biosynthetic pathway and is encoded by the FECH gene
located on chromosome 18. The skin symptoms in EPP include immediate painful photosensitivity,
usually beginning in early infancy upon sun exposure. Repeated photosensitivity episodes result in skin
thickening and areas of hyperkeratosis. This is typically noted on areas where sun exposure is most
common, such as the dorsa of the hands and on the face. A small number of patients with EPP develop
liver complications. Hepatic disease in EPP may include cholelithiasis and chronic liver disease
progressing to rapid acute liver failure. Biochemically, EPP is characterized by elevated protoporphyrin
levels in red blood cells, which fluorescence under Woodâ€s light due to the accumulation of free
protoporphyrin IX. Protoporphyrin elevations may also be found in plasma and stool, but not in all
patients. Urine protoporphyrin levels are usually normal unless there is liver involvement. Studies have
also suggested that a reduction in activity of ferrochelatase to C) in trans (on a different chromosome) with the mutation. IVS3-48T->C is a variant of the
FECH gene associated with reduced gene expression. This variant is found in approximately 10% of the
general Caucasian population. Autosomal recessive inheritance (2 pathogenic mutations in trans) is
infrequent, accounting for