Hereditary hemochromatosis: population screening based on phenotype in Brazilian blood donors.
OBJECTIVE
A population of blood donors was screened for hereditary hemochromatosis (HH) based on the phenotype strategy in accordance with the European consensus.


METHODS
Nonfasting serum samples were obtained from 1,050 donors. Transferrin saturation (TS) was measured using a threshold of 45%. Donors with a TS > or = 45% were retested in a fasting sample. If TS was elevated, the participants were tested for iron overload by ferritin measurement followed by genetic testing. All donors underwent clinical and laboratory workup for expression of the disease.


RESULTS
A total of 775 (74.6%) of the donors were men, 749 (72.1%) white, and had a mean age of 30 years (range, 8-60 years). Mean +/- SD TS was 25.9% +/- 13.1% (range, 2.1%-85.8%), and there were 58 (5.6%) donors with a TS > or = 45%. Fifty-four subjects had a repeat TS in a fasting serum sample with a mean +/- SD TS of 32.1% +/-16.1% (range, 15.4%-63.0%), and 12 donors had a TS > or = 45%. Ten complied with genetic testing and ferritin measurement. The study found four donors with HH-related mutations (C282Y and/or H63D); therefore, a gene allele frequency of 0.4%. Only the C282Y homozygote had diagnostic criteria for HH, defining a disease frequency of 0.1%. None of the donors who were mutations carriers had clinical or laboratory manifestations of organic injury.


CONCLUSIONS
We conclude that this is a feasible screening strategy that, by timely diagnosing HH, allows patients not only to benefit from effective treatment but also to have disease progression halted.
Barbosa
Kátia Valéria Bastos Dias
KV
Division of Gastroenterology, Department of Internal Medicine of Federal University of Juiz de Fora-Minas Gerais, Minas Gerais, Brazil. katiavbdbarbosa@ig.com.br
de Souza
Aécio Flávio Meirelles
AF
Chebli
Júlio Maria Fonseca
JM
Proietti
Fernando Augusto
FA
Meirelles
Ricardo Souza Portes
RS
de Souza
Juliano Leite
JL
D000293:Adolescent; D000328:Adult; D001782:Blood Donors; D001938:Brazil / Q000453:epidemiology; D002648:Child; D004247:DNA / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D005819:Genetic Markers; D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011159:Population Surveillance / Q000379:methods*; D015995:Prevalence; D012189:Retrospective Studies; D014168:Transferrin / Q000378:metabolism
D005819:Genetic Markers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D004247:DNA; D005293:Ferritins