Hemochromatosis is a disorder in which intestinal iron absorption is increased and overload of iron can build up in the organs and cause organ failure. There are two types of hemochromatosis: primary is caused by a defect in the certain genes that control absorption of iron. Secondary hemochromatosis is the result of another chronic disorders.
Panel test:
Genetics test:
§ HFE (type I): is very common in patients.
§ Juvenile hemochromatosis (type II):
ü Type IIA: Mutation in HJV
ü Type IIB: Mutation in HAMP
§ Transferrin receptor 2 mutation (type III)
§ Ferroportin mutations (type IV):
ü Macrophage type: Loss of function
ü Hepati type: Gain of function
Lab tests:
CBC and Automated Differential
Blood Smear with Interpretation
Iron and Iron Binding Capacity
Serum Ferritin
Soluble transferrin Receptor
Transferrin saturation
Liver function tests
References:
1. ACG Clinical Guideline: Hereditary Hemochromatosis Kris V. Kowdley, MD, FACG1, Kyle E. Brown, MD, MSc2,3,4, Joseph Ahn, MD, MS, MBA, FACG (GRADE Methodologist)5 and Vinay Sundaram, MD, MSc. Am J Gasroenterol 2019; 114: 1202-1218.
