Hemochromatosis laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Laboratory Findings
Electrolyte and Biomarker Studies
Serum transferrin saturation- A first step is the measurement of transferrin saturation, 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, the protein which chemically binds to iron and stores it in the body. 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 haemochromatosis.[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.
Screening and diagnosis of hemochromatosis.WT, wild type; HII, histologic iron index; CII, chemical iron index; HH, hereditary hemochromatosis[5][6][7][8][9][10][11][12]
Serum Transferin Saturation TS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
<50% premenupasal females <60% men, postmenupasal women | ≥50% premenupasal females ≥60% men, postmenupasal women | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Repeat Transferin Saturation TS 2 Serum Feretin SF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Repeat testing every 5 year | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TS:<50% premenupasal females TS: <60% men, postmenupasal women SF: 20-250μg/L premenupasal females SF: 10-120μg/L men, postmenupasal women | TS:≥50% premenupasal females TS: ≥60% men, postmenupasal women SF:>200 μg/L premenupasal females SF:>300 μg/L men, postmenupasal 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Secondray hemochromatosis | Phelebotomy to maintain Serum Feretin | Repeat TS and SF after 2-3 year | Phelebotomy to maintain Serum Feretin | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Screen family with Transferin Saturation & Serum Feretin 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 (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.