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HEMOCHROMATOSIS

Hemochromatosis is a disorder of iron metabolism resulting in excessive iron storage leading to increased skin pigmentation, arthritis, hypogonadism, diabetes mellitus, heart arrhythmias/failure, cirrhosis and liver carcinoma. Hemochromatosis is an iron overload disorder caused by excess iron being stored in the body that can be inherited or acquired. Hereditary hemochromatosis (HH) is a genetic disorder resulting in excessive absorption and storage of dietary iron, leading to progressive iron accumulation in tissues and resulting in organ damage.

CLINICAL INDICATIONS FOR TESTING:

  • Arthralgias
  • Skin pigmentation
  • Diabetes
  • Cardiac symptoms
  • Osteopenia after other causes of ferritin increase are ruled out (eg, alcohol abuse, acute/chronic hepatitis B or hepatitis C, metabolic syndrome)
  • Adult Caucasian men of North European ancestry >25 years
  • First-degree relatives of patients with disease
  • All patients with evidence of liver disease without obvious etiology
  • First-degree relatives of patients with disease
C282Y
  • Variable penetrance – most patients will have biochemical abnormalities; up to 2% will have characteristic clinical endpoints
  • Severe disease, 11% carrier frequency in Caucasians
H63D
  • Compound heterozygosity (C282Y/H63D) – 5% of cases, Milder form of the disease
  • 25% carrier frequency in Caucasians

SAMPLE REQUIREMENTS:

Blood: 3-5 ml purple top (EDTA) vacutainer of whole blood inverted several times to mix. Forward within 48 hours at room temperature.

Please consult the lab for tissue or body fluid submission.

Amniotic Fluid: 10-15 ml amniotic fluid from 14th-17th week of gestation or one confluent T25 flask of cultured cells. Send specimen refrigerated, but not frozen (do not ship on dry ice). Please use an overnight courier service.

Test Method:  RFLP

Turn around time:   5-7 days

References:

  • Comen, E., etc. Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi Women. Breast Cancer Res Treat. (2011)
  • Lavie, O., etc. Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population.  Ann Oncol (2011) Apr;22(4):864-6.
  • Rennert, G., etc. Clinical outcomes of Breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med (2007), 357:115-123.