Hemochromatosis laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Sunny Kumar MD [3]
Overview
In patients with high suspicion first test ordered is transferrin saturation (TS). It is followed by serum ferritin levels. In case of strong evidence of familial history and lab findings, patients should go through genotyping which save the need of unnecessary biopsy of liver to assess the iron index.
Laboratory Findings
Electrolyte and biomarker studies
Serum transferrin saturation: A first step is the measurement of transferrin saturation, as transferrin is the protein which chemically binds to iron and carries it through the blood to the liver, spleen and bone marrow.[1] Measuring transferrin provides a measurement of iron in the blood. Saturation values of 45% are probably a good cutoff to determine whether a patient is a candidate for further testing. [2] The transferrin saturation is usually expressed as a percentage, and is calculated as the total serum iron level divided by the serum iron transferrin level times 100.
Serum ferritin: Ferritin is the protein which chemically binds to iron and stores it in the body but does not transport iron. Measuring ferritin provides a measurement of iron in the whole body. Normal values for males are 12-300 ng/ml (nanograms per milliliter) and for female, 12-150 ng/ml. Low values indicate iron deficiency, which may be attributed to a number of causes. Higher than normal also may indicate other causes including hemochromatosis.[3][4] Other blood tests routinely performed: blood count, renal function, liver enzymes, electrolytes, glucose (and/or an oral glucose tolerance test (OGTT)).
Blood glucose monitoring for patients with hemochromatosis diabetes.
The following are lab values for diagnosing patient with hemochromatosis:[5]
| Measurements | Asymptomatic | Symptomatic |
|---|---|---|
| Serum iron level (μg/dL) | 150-280 | 180-300 |
| Serum transferrin saturation | 45-100 | 80-100 |
| Serum ferritin level (μg/L) | Men 150-1000 | 500-6000 |
| Female 120-1000 | 500-6000 | |
| Hepatic iron concentration μg/g dry weight | 2000-10,000 | 8000-30,000 |
| Perls' Prussian blue stain | 2+ to 4+ | 3+, 4+ |
| Hepatic iron index | >1.9 | >1.9 |
Screening and diagnosis of hemochromatosis.WT, wild type; HII, histologic iron index; CII, chemical iron index; HH, hereditary hemochromatosis[6][7][8][9][10][11][12][13]
| Serum Transferrin Saturation TS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| <50% premenopausal females <60% men, postmenopausal women | ≥50% premenopausal females ≥60% men, postmenopausal women | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 1 Repeat Transferrin Saturation TS 2 Serum Ferritin SF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat testing every 5 year | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TS:<50% premenopausal females TS: <60% men, postmenopausal women SF: 20-250μg/L menopausal females SF: 10-120μg/L men, menopausal women | TS:≥50% premenopausal females TS: ≥60% men, postmenopausal women SF:>200 μg/L premenopausal females SF:>300 μg/L men, menopausal women | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat TS and SF every 2-3 year | Serum Feretin<1000 μg/L | Serum Feretin>1000 μg/L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Geno-typing | Liver biopsy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WT/WT genotype | C282Y/WT genotype | C282Y/H63D genotype | C282Y/C282Y genotype | Histological iron index<0.15 Chemical iron index<2.0 | Histological iron index>0.15 Chemical iron index>2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Secondary hemochromatosis | Phelebotomy to maintain Serum Feretin | Repeat TS and SF after 2-3 year | Phelebotomy to maintain Serum Feretin | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Screen family with Transferrin Saturation & Serum Ferritin if atypical HH suspected | Screen family with genotyping | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Moniter Transferin Saturation & Serum Feretin in subclinical members | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
References
- ↑ Transferrin and Iron Transport Physiology
- ↑ Screening and Diagnosis
- ↑ Screening and Diagnosis
- ↑ Ferritin Test Measuring iron in the body
- ↑ Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS, American Association for the Study of Liver Diseases (2011). "Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases". Hepatology. 54 (1): 328–43. doi:10.1002/hep.24330. PMC 3149125. PMID 21452290.
- ↑ Bacon BR (2012). "Hemochromatosis: discovery of the HFE gene". Mo Med. 109 (2): 133–6. PMID 22675794.
- ↑ Asia-Pacific Working Party on Prevention of Hepatocellular Carcinoma (2010). "Prevention of hepatocellular carcinoma in the Asia-Pacific region: consensus statements". J Gastroenterol Hepatol. 25 (4): 657–63. doi:10.1111/j.1440-1746.2009.06167.x. PMID 20492323.
- ↑ Adams PC (2015). "Epidemiology and diagnostic testing for hemochromatosis and iron overload". Int J Lab Hematol. 37 Suppl 1: 25–30. doi:10.1111/ijlh.12347. PMID 25976957.
- ↑ Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.
- ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
- ↑ Adams PC, Barton JC, Guo H, Alter D, Speechley M (2015). "Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study". Ann Hepatol. 14 (3): 348–53. PMID 25864215.
- ↑ Adams PC, McLaren CE, Speechley M, McLaren GD, Barton JC, Eckfeldt JH (2013). "HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L". Can J Gastroenterol. 27 (7): 390–2. PMC 3956024. PMID 23862168.
- ↑ Lim A, Speechley M, Adams PC (2014). "Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44,809 participants of the HEIRS study". Can J Gastroenterol Hepatol. 28 (9): 502–4. PMC 4205907. PMID 25314357.