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PubMed1996

The Anterior Pituitary in Hemochromatosis.

Pituitary changes in the case of a 69-year-old man with hemochromatosis are reported. The patient died of complications of hepatocellular carcinoma. The pituitary removed at autopsy was studied by histology, histochemistry, immunocytochemistry, electron microscopy, and X-ray diffraction. Preferential localization of iron deposits was demonstrated within gonadotrophs, which, at the ultrastructural level, displayed selective, severe cellular injury. X-ray diffraction revealed the deposition of iron-accumulated lysosomes. Iron storage also was noted in stellate cells. We consider selective injury of pituitary gonadotrophs to be the basis of hypogonadism in iron-overloaded states.

Journal Article↗
PubMed1999

Hemochromatosis.

The mainstay of treatment for hemochromatosis is therapeutic phlebotomy. The procedure is safe, effective, and relatively cheap. Deferoxamine (iron chelation) is necessary only in iron-loaded individuals who cannot undergo therapeutic phlebotomy. If therapy is initiated before complications develop, it is expected that no complications will ever develop.

Journal Article↗
PubMed2000

Biochemical expression of heterozygous hereditary hemochromatosis.

Background: Hereditary hemochromatosis (HH) is a common autosomal recessive disease caused by an iron overload. Two mutations (C282Y and H63D) on the responsible HFE gene have been described. HH heterozygotes may have a slight iron overload that does not cause clinical disease. Compound heterozygosity may be associated with higher iron stores than C282Y heterozygosity. We studied biochemical iron parameters in HH C282Y and compound heterozygotes without a clinically significant iron overload. Methods: Data on hemoglobin, hematocrit, mean corpuscular volume, serum ferritin, serum iron, transferrin, and transferrin saturation were obtained from 40 C282 wild type controls (irrespective of H63D genotype), 61 C282Y heterozygotes, and 18 compound (C282Y/H63D) heterozygotes without clinical iron overload disease. Results: Serum ferritin levels were significantly higher in female HH heterozygotes, particularly in compound heterozygotes, than in normal women. In male heterozygotes, no difference in serum ferritin was found. We found higher mean serum iron and transferrin saturation levels in male and female HH heterozygotes than in normal controls, the highest in the group of compound heterozygotes. Conclusions: Mean serum ferritin (only in women), serum iron, and transferrin saturation are highest in compound heterozygotes and lowest in controls. C282Y heterozygotes seem to be an intermediate group between compound heterozygotes and the normal population.

Journal Article↗
PubMed2001

No influence of hemochromatosis-related gene mutations on restenosis rate in a retrospective study of 137 patients after coronary stent implantation.

BACKGROUND: Recent publications have shown an increased risk of coronary artery disease and myocardial infarction in patients with alteration of the hemochromatosis-related gene (HFE gene). The HFE gene mutation is associated with elevated iron uptake and serum iron overloading. Iron plays an important role in promoting the oxidation of LDL cholesterol. The iron deposition in the endothelium and in the media is closely associated with the progression of atherosclerosis. However, it is unclear whether the mutation of the HFE gene also influences the rate of restenosis after coronary stent implantation. METHODS: In a retrospective analysis, 137 patients (pts.) who underwent elective coronary stent implantation were angiographically reevaluated after six months. All patients were part of the OPTICUS-study population which investigated optimized stent implantation guided by intravascular ultrasound. Computerized quantitative analysis was performed in all procedures in a double-blinded fashion. At six-month follow-up, DNA fragments containing the substitution of tyrosine for cytosine at codon 282 were amplified by PCR. The results were analyzed by polyacrylamide gel electrophoresis. Statistical analysis was performed by multivariate linear regression. RESULTS: According to the HFE gene polymorphism we formed two subgroups: 129 pts. (94%) did not show changes in HFE gene (NH), 8 pts. (6%) were heterozygous for HFE Cys282Tyr (H). The groups did not differ in age, gender, extent of coronary artery disease, initial degree and length of stenosis and all patients underwent re-angiography. At six-month follow-up the average luminal narrowing in the stented vessel was 36.2 +/- 20.3% in the NH group compared with 27.8 +/- 20.0% in the H group which was statistically not significant (n. s.). The minimal luminal diameter was 1.9 +/- 0.71 mm in the NH group and 2.2 +/- 0.66 mm in the H group respectively (n. s.). 33 pts (26%) in the NH group versus 2 pts (25%) in the H group had >/= 50% diameter narrowing at follow-up (n. s.). The odds ratio of stent restenosis in H patients was 0.932. CONCLUSIONS: The authors did not find any association between restenosis rate and HFE gene alteration and therefore, we conclude that the polymorphism of the HFE gene is not a risk factor for restenosis after coronary stent implantation.

Journal Article↗
PubMed1996

Quantitative Texture Analysis in Two-Dimensional Echocardiography: Application to the Diagnosis of Myocardial Hemochromatosis.

BACKGROUND: Myocardial reflectivity is abnormally increased in patients with thalassemia major under transfusion treatment, probably due to myocardial iron deposits and/or secondary structural changes. Such increased reflectivity has been detected by both qualitative and subjective analysis of two-dimensional echocardiographic (2-D echo) images and quantitative assessment of integrated backscatter amplitude with noncommercially available ultrasound prototypes. The purpose of this study was to assess the acoustic properties of myocardium in patients with beta-thalassemia major and iron overload by means of quantitative computerized offline textural analysis of conventionally recorded 2-D echo images, and to compare textural data with other qualitative (visual assessment) and quantitative (ultrasound backscatter analysis) approaches for myocardial ultrasound tissue characterization simultaneously applied to these patients. METHODS AND RESULTS: Thirty-five young patients with thalassemia major, without clinical signs of cardiac failure, and 20 age and sex matched normal controls were studied by echocardiography. Each patient was receiving blood transfusion every 2-3 weeks. Two-dimensional echo images, obtained with a commercially available echocardiograph using the parasternal long-axis view, were digitized off line and analyzed by first and second order texture algorithms applied to regions of interest in the myocardium (septal and posterior wall). The mean gray level value was higher in thalassemic patients than in controls on both the septum (110 +/- 25 vs 57 +/- 13, arbitrary units on a 0-255 scale; P < 0.01) and posterior wall (91 +/- 25 vs 67 +/- 18; P < 0.01). Among second order statistical parameters, contrast and angular second moment significantly (P < 0.01) differentiated septal and posterior walls of patients and controls. In thalassemic patients, no consistent correlation was found between wall texture parameters and hematologic (years of transfusions and chelation, number of transfusions), 2-D echo (posterior wall thickness, left ventricular end-diastolic diameter), and Doppler (transmitral E/A waves ratio) parameters. Myocardial walls with visually assessed increased echo reflectivity showed a trend toward higher values of mean gray level when compared with myocardial segments with qualitatively assessed normal reflectivity (septum: 121 +/- 26 vs 106 +/- 24; posterior wall: 105 +/- 23 vs 87 +/- 23). Although radiofrequency integrated backscatter has been demonstrated to be capable of identifying thalassemic patients, no significant correlation was found between mean gray level (by texture analysis) and radiofrequency data (septum: r = 0.03; posterior wall: r = 0.09; P = NS for both). CONCLUSIONS: Myocardial walls affected by hemochromatosis show ultrasound image texture alterations that may be quantified with digital image analysis techniques and appear mostly unrelated to hematologic and conventional, as well as radiofrequency-based, echocardiographic parameters. These changes in quantitatively evaluated echo reflectivity are present even before the development of clinical and echocardiographic signs of cardiac dysfunction. (ECHOCARDIOGRAPHY, Volume 13, January 1996)

Journal Article↗
PubMedDate not supplied

The role of Hemochromatosis C282Y and H63D mutations in the development of type 2 diabetes mellitus in Greece.

Several authors have suggested a positive association between diabetes type 2 (DM2) and the C282Y and H63D mutations of the hereditary hemochromatosis gene but others have disputed it. There are also papers reporting an increased iron load in diabetes type 2 and a possible association with the pathogenesis of the disease. We therefore performed a study in 100 type 2 diabetics and 100 age and sex matched controls to assess the possibility that C282Y and H63D mutations constitute a risk factor for DM2 in Greece. We also evaluated the iron load in 500 diabetes type 2 patients and 423 age and sex matched controls. We did not find any differences in the allele frequencies of the above mutations between patients with diabetes type 2 and controls. The allele frequencies were estimated to be 0.0075 for the C282Y and 0.115 for the H63D mutation. Subjects with even one mutation (C282Y or H63D) had higher transferrin saturation compared to those with no such mutations. This seems to apply to both diabetics (49+/- 8,6 vs 44,5+/- 5,4, p<0,01) and controls (49,3+/- 7,3 vs 42,6+/- 3,3 p<0,01). Patients with DM2 had higher transferrin saturation compared to the general population. These differences were found among men (n=250, mean+/- SD 31,8+11 vs n=73, mean+/- SD 29,5+8, p=0,05) as well as among women (n=250, mean+/- SD 28.5+10 vs n=350, mean+/- SD 25.5+9.6, p=0.001). The DM2 patients had higher ferritin levels compared to controls. In conclusion, DM2 patients have increased iron load. The C282Y and H63D mutations contribute to increased iron load in both DM2 and controls. There was no difference in the frequency of C282Y and H63D alleles between DM2 and controls in the Hellenic population.

Journal Article↗
PubMed2000

[Iron overload and liver diseases (except for hemochromatosis and dysmetabolic hepatosiderosis].

Iron accumulation in the liver is frequently observed in hepatic diseases whatever their etiologies. In the majority of cases, there is no true overload, and iron accumulation corresponds to deposits in macrophages secondary to iron release from damaged hepatocytes. More rarely, namely in severe cirrhosis, there is a true overload, which is probably related to iron intestinal hyperabsorption. In such case, the site of iron excess is hepatocytic. Except for hemochromatosis, mutations of HFE gene do not play a major role in iron overload. In chronic liver diseases, iron overload could favor the development of hepatocellular carcinoma, even in the absence of cirrhosis.

Hepatitis, Viral, Human↗
PubMed1999

Hemochromatosis, iron, and blood donation: a short review.

Hereditary hemochromatosis (HH), an autosomal recessive disease of iron overload, is one of the most common inherited diseases. The candidate gene (HFE) for HH has been identified recently and a DNA-based test for the mutation is available. Treatment for HH patients with elevated iron stores include repeated phlebotomy. Left untreated, iron overload can lead to cirrhosis, organ failure, and a shortened life expectancy. In the past and present, blood collected for therapeutic purposes from patients with HH has been discarded. The aim of this article is to address whether blood collected from HH patients should be used for allogeneic transfusion in the future.

Journal Article↗