Premium
Screening for haemochromatosis: prevalence among Danish blood donors
Author(s) -
WIGGERS P.,
DALHØJ J.,
KIÆR H.,
RINGLARSEN H.,
PETERSEN P. HYLTOFT,
BLAABJERG O.,
HØRDER M.
Publication year - 1991
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.1991.tb00441.x
Subject(s) - medicine , transferrin saturation , phlebotomy , hemochromatosis , liver biopsy , hereditary hemochromatosis , gastroenterology , cirrhosis , danish , diabetes mellitus , liver disease , ferritin , serum iron , disease , serum ferritin , biopsy , endocrinology , hemoglobin , linguistics , philosophy
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 ≥ 0.7; (ii) TS ≥ 0.5 together with SF ≥ 150 μg l −1 ; (iii) SF ≥ 300 μg 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 ≥ 300 μg 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.