Screening for haemochromatosis: prevalence among Danish blood donors

Abstract

Hereditary haemochromatosis is an autosomal recessive disease that is genetically expressed by excessive accumulation of iron in the tissues, resulting in cirrhosis, diabetes mellitus, cardiomyopathy and hypogonadism. As the disease may be diagnosed before the appearance of symptoms, and prevented by repeated phlebotomies, there are strong implications for adoption of a screening procedure. Determinations of transferrin saturation (TS) and serum ferritin concentration (SF) were used to screen 4302 blood donors, who were selected for follow-up studies if they fulfilled any of the following three criteria: (i) TS greater than or equal to 0.7; (ii) TS greater than or equal to 0.5 together with SF greater than or equal to 150 micrograms l-1; (iii) SF greater than or equal to 300 micrograms l-1. A total of 58 subjects who fulfilled at least one of these criteria were reinvestigated, after which 18 individuals still fulfilled at least one criterion. Fifteen subjects having SF greater than or equal to 300 micrograms l-1 were offered liver biopsy and thirteen of these accepted. In one individual, no stainable iron was detected, and two subjects did not fulfil the previously established diagnostic criteria for the diagnosis of hereditary haemochromatosis. Ten subjects who had a high TS and liver iron grade 2-4 according to Bassett were classified accordingly as homozygotes. On the basis of these results, the prevalence of haemochromatosis in Denmark was estimated to be 0.0037-0.0046.

Prevalence of hereditary hemochromatosis in a Massachusetts corporation: Is Celtic origin a risk factor?

“…Complete ethnic background working population of 2 to 3 newly discovered cases per 1,000 information was not available for 393 employees (19.9%). employees falls at the low end of the spectrum of prevalence Analysis of the five newly identified probands revealed that results reported from other population screening studies and four of the five were likely to be of primarily Celtic heritage pedigree analyses, which generally range from 2 to 8 cases because at least two grandparents for each of these probands per 1,000 population [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]31,45,46 (Table 1). Most of these studies originated from Ireland or Wales.…”

“…Settlements then dispersed to Belgium, the United Kingto 1:270 (0.37%). 11, 13,15,16,18,48 Family studies using HLA typing to assign the homozygous genotype and not dependent dom, Ireland, Spain, Scandinavia, and Eastern Europe. Later migrations of Celtic descendants to Australia and North on clinical or laboratory evidence of iron overload have estimated prevalence at between 2 and 10 cases per America would explain the prevalence of HHC in these countries.…”

“…[9][10][11][12][13][14][15][16][17][18][19][20][21]31 Detailed comparisons of quantitative hepatic iron determination, hepatic iron inethnic and racial backgrounds have not been reported. The dex, and the phlebotomy requirement for iron depletion.…”

“…[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] Approximately 70% of affected persons matosis (HHC) is estimated at 1:250 in Caucasian adults.…”

“…[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] Approximately 70% of affected persons matosis (HHC) is estimated at 1:250 in Caucasian adults.possess HLA-A3 alloantigen. 5,[22][23][24][25][26][27][28] Simon et al hypothesize Little is known about ethnic subpopulations that might that the genetic mutation leading to iron overload originally be at increased risk for this disease.…”