Search PubMed⌕ Search

Biomedical subjects

R Saddi

Publications and source records attributed to R Saddi.

At least 19 recordsLinked to original sources

[Haemoglobin AIc in patients on venesection therapy for haemochromatosis (author's transl)].

Haemoglobin AIc values measured in diabetic patients with idiopathic haemochromatosis tended to be lower than in diabetics without haemochromatosis. The observed difference was analysed with respect to different parameters related to diabetes or haemochromatosis and their treatment (sex, age, duration of diabetes, insulin-dependency, frequency and volume of blood withdrawn) which could possibly explain these low values. Among the twenty-eight subjects with haemochromatosis, thirty-two non-diabetics, twenty-six insulin-dependent diabetics, and twenty-four non-insulin-treated diabetics, we observed that the more frequently venesection therapy was performed, the lower the levels of haemoglobin HbAIc, HbAIa+b tended to be. Thus, the decreased HbAIc rates observed in haemochromatosis patients may be ascribed to the venesection therapy, which induces an increased turnover of red cells, and consequently a decrease of the time available for their glycosylation.

Adult↗

HLA-A3, B7 linkage disequilibrium in hemochromatotic patients with or without insulin dependent diabetes.

Sixty-six idiopathic hemochromatotic French patients were HLA-A, B typed. The previously known strong association with A3 was confirmed (RR = 10.6, P less 10(-9)) and our results indicate clearly that a gene implicated in idiopathic hemochromatosis (IH) determinism is located in the HLA-A region. The linkage disequilibrium between A3 and B7 was found to be far greater in IH patients than in controls. The authors have therefore hypothesized that this might be due to a selective advantage of this haplotype in IH. The A3, B7, Dw2 HLA haplotype has been shown to exert a protective effect against common insulin dependent diabetes (IDD). Thus the patients were divided into two groups according to the presence or absence of a definite IDD. B7 was found more frequently in IH patients without IDD but the difference is not significant. In this context, the strong linkage disequilibrium between A3 and B7 might be due to the protective effect of the B region of this haplotype against IH secondary IDD.

Diabetes Mellitus↗

Idiopathic hemochromatosis: linkage with HLA.

Forty-eight unrelated patients with idiopathic hemochromatosis were found to have a significantly higher frequency of three HLA antigens (A3, B7 and B14) than 591 healthy controls. A significant association between HLA haplotypes and disease segregations was demonstrated in 14 family studies. A recessive inheritance of a strongly A3-linked disease gene responsible for abnormal iron stores in the heterozygote state is postulated. The lod score value (4.415 for theta = 0.025) is compatible with this hypothesis. However, the excess of HLA-identical pairs of affected sibs does not exclude the possibility of a pseudo-recessiveness due to two codominant genes both HLA-linked. For the first time, a means of screening for high risk subjects is available and therefore offers the possibility of a preventive approach.

Genes, Dominant↗

[Idiopathic hemochromatosis linkage with the HLA system (author's transl)].

Fourteen selected families containing two or more subjects suffering from idiopathic hemochromatosis and 34 unrelated cases have been studied for their HLA markers. A 3 was present in 75% of the unrelated cases vs 26% in the normal population (p less than 10(-8)). The frequencies of B 7 (38% vs 19%) and B 14 (23% vs 9%) were also increased (p lessthan 0,05). Inevitably, in most cases both antigens in the B locus were associated with A 3. Seven of nine affected sib pairs shared both HLA haplotypes, while two shared only one. Significant association between HLA haplotypes and diseases segregation has been demonstrated in family studies. These facts are consistent with the recessive inheritance of a strongly A 3 linked "disease" gene responsible for abnormal iron stores in the heterozygote state. This hypothesis would account for 64% of our present cases. Most of discordances (26%) were females who are physiologically protected, or children under 17 who might later develop the disease. The remaining 10% of disordant cases could be explained by crossing-over between "disease" gene and HLA loci or by an heterogeneity of the disease. This provides a method for screening for high risk subjects and perhaps an opportunity for anticipatory prevention.

Adolescent↗