Which individuals should be considered for screening for hemochromatosis?

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Screening for hemochromatosis should be considered in the following individuals [99] :

  • All first-degree relatives of subjects known to have hemochromatosis: Human leukocyte antigen (HLA) typing is no longer necessary; family members identified as having C282Y homozygosity should be tested for transferrin saturation, serum ferritin, and liver enzymes; screening of young children of patients with hemochromatosis does not need to be performed if the spouse is tested and does not have the C282Y mutation

  • Individuals presenting for a standard medical check: Transferrin saturation should be measured; if levels are higher than 45%, the estimation should be repeated after fasting—if the fasting level still is higher than 45%, further investigation is warranted [100] & An initial fasting sample will obviate the necessity for repeating the test.

  • The general population: This group possibly should be screened, although screening is more difficult and debatable in these individuals, [101] and cost is a major consideration; a consensus stated that population screening is best performed by phenotype (using iron-binding capacity), but using genotype screening (using C282Y mutation) is considered premature until all unanswered questions are clarified

  • If a proband is negative for C282Y mutation, family members must be screened by other means, such as serum iron studies or HLA typing; HLA typing or tissue typing has been used to detect homozygous hemochromatosis in a sibling of a proband who has hemochromatosis by other means, such as liver biopsy or quantitative phlebotomy—in this setting, a sibling who is HLA-A identical and HLA-B identical to the proband is considered homozygous; if only 1 haplotype is shared with the proband, the sibling is considered heterozygous

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