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Hereditary Hemochromatosis Blood Test

Last updated Oct. 27, 2016

The Hereditary Hemochromatosis Blood Test helps detect mutations in the HFE gene. It is used to diagnose hereditary hemochromatosis


What are other Names for this Test? (Equivalent Terms)

  • Hereditary Hemochromatosis Mutation Assay Blood Test
  • HH Blood Test

What is Hereditary Hemochromatosis Blood Test? (Background Information)

  • Hereditary hemochromatosis (HH) is a genetic disorder caused by excessive absorption of iron from food, which causes iron to build up in the tissues
  • Iron enables the hemoglobin in red blood cells to carry oxygen throughout the body. Iron cannot be made in the body; it must be obtained from the diet
  • Iron levels are tightly regulated by proteins that control its absorption and transport. Problems with these proteins may cause iron to accumulate, especially in the skin, liver, heart, pancreas, and joints
  • Instructions for making these proteins reside in the body’s genetic blueprint. Mutations in several genes have been implicated with hereditary hemochromatosis
  • A mutation that is very strongly associated with hereditary hemochromatosis is called the C282Y mutation, and it affects the HFE gene
  • Because nearly all human cells have two copies of the genetic blueprint, only HFE mutations that are present in both copies are strongly associated with hereditary hemochromatosis; in up to 90% of the cases
  • The Hereditary Hemochromatosis Blood Test helps detect mutations in the HFE gene. It is used to diagnose hereditary hemochromatosis

What are the Clinical Indications for performing the Hereditary Hemochromatosis Blood Test?

Following are the clinical indications for performing the Hereditary Hemochromatosis Blood Test:

  • Family history of hereditary hemochromatosis
  • Fatigue
  • Joint pain
  • Abdominal pain
  • Loss of libido

How is the Specimen Collected for Hereditary Hemochromatosis Blood Test?

Following is the specimen collection process for Hereditary Hemochromatosis Blood Test:

Sample required: Blood

Process of obtaining blood sample in adults:

  • A band is wrapped around the arm, 3-4 inches above the collection site (superficial vein that lies within the elbow pit)
  • The site is cleaned with 70% alcohol in an outward spiral, away from the zone of needle insertion
  • The needle cap is removed and is held in line with the vein, pulling the skin tight
  • With a small and quick thrust, the vein is penetrated using the needle
  • The required amount of blood sample is collected by pulling the plunger of the syringe out slowly
  • The wrap band is removed, gauze is placed on the collection site, and the needle is removed
  • The blood is immediately transferred into the blood container, which has the appropriate preservative/clot activator/anti-coagulant
  • The syringe and the needle are disposed into the appropriate “sharp container” for safe and hygienic disposal

Preparation required: No special preparation is needed prior to the test.

What is the Significance of the Hereditary Hemochromatosis Blood Test Result?

A positive value for the Hereditary Hemochromatosis Blood Test is associated with a mutation in the HFE gene. 

  • The C282Y mutation, if present in both copies of the genetic blueprint, may indicate hereditary hemochromatosis, in up to 90% of the cases
  • Other mutations linked with hereditary hemochromatosis include the H63D mutation, if present in both copies of the genetic blueprint, and the S65C mutation, if present in only one copy, but is coincident with the C282Y mutation

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Certain factors interfere with the results of the Hereditary Hemochromatosis Blood Test. These include DNA rearrangements, blood transfusions, and bone marrow transplants

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?

The following DoveMed website link is a useful resource for additional information: http://www.dovemed.com/ferritin-test/

Please visit our Laboratory Procedures Center for more physician-approved health information:

http://www.dovemed.com/common-procedures/procedures-laboratory/

References and Information Sources used for the Article:

Kee, J. L. (2010). Laboratory and diagnostic tests with nursing implications (8th ed.). Upper Saddle River, NJ: Pearson.

Martini, F., Nath, J. L., & Bartholomew, E. F. (2012). Fundamentals of anatomy & physiology (9th ed.). San Francisco: Benjamin Cummings.

National Institutes of Health. (2016, January 15). Hereditary hemochromatosis. Retrieved from http://ghr.nlm.nih.gov/

Williamson, M. A., Snyder, L. M., & Wallach, J. B. (2011). Wallach's interpretation of diagnostic tests (9th ed.). Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins.

Helpful Peer-Reviewed Medical Articles:

Porto, G., Brissot, P., Swinkels, D. W., Zoller, H., Kamarainen, O., Patton, S., ... & Keeney, S. (2015). EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics.

Pietrangelo, A. (2015). Genetics, genetic testing, and management of hemochromatosis: 15 years since hepcidin. Gastroenterology, 149(5), 1240-1251.

van Aerts, R. M., van Deursen, C. T. B., & Koek, G. H. (2016). Proton pump inhibitors reduce the frequency of phlebotomy in patients with hereditary hemochromatosis. Clinical Gastroenterology and Hepatology, 14(1), 147-152.

Rabideau, M. M., White, H. J., Anderson, M., & Deucher, A. (2014). Clinical Testing of Five Hereditary Hemochromatosis-Related Genes: Preliminary Evidence for the Benefit of Next Generation Sequencing. Blood, 124(21), 1355-1355.

Lanktree, M. B., Lanktree, B. B., Waye, J. S., Pare, G., Sadikovic, B., & Crowther, M. A. (2014). Retrospective Evaluation of Patients Referred for Hemochromatosis Genetic Testing. Blood, 124(21), 4035-4035.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: March 31, 2016
Last updated: Oct. 27, 2016