Biomaterial Database

Hereditary hemochromatosis: population screening based on phenotype in Brazilian blood donors. 2005

Kátia Valéria Bastos Dias Barbosa, and Aécio Flávio Meirelles de Souza, and Júlio Maria Fonseca Chebli, and Fernando Augusto Proietti, and Ricardo Souza Portes Meirelles, and Juliano Leite de Souza

Division of Gastroenterology, Department of Internal Medicine of Federal University of Juiz de Fora-Minas Gerais, Minas Gerais, Brazil. katiavbdbarbosa@ig.com.br

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008565	Membrane Proteins	Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.	Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D011159	Population Surveillance	Ongoing scrutiny of a population (general population, study population, target population, etc.), generally using methods distinguished by their practicability, uniformity, and frequently their rapidity, rather than by complete accuracy.	Surveillance, Population
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D001782	Blood Donors	Individuals supplying blood or blood components for transfer to histocompatible recipients.	Blood Donor,Donor, Blood,Donors, Blood
D001938	Brazil	A country located on the eastern coast of South America, located between Colombia and Peru, that borders the Atlantic Ocean. It is bordered on the north by Venezuela, Guyana, Suriname, and French Guiana, on the south by Uruguay, and on the west by Argentina. The capital is Brasilia.
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children