Objective: To evaluate the inheritance modes and the genetic factors of primary hemochromatosis on its etiology among throngs of Chinese Miao nationality in causing the disease and to study the relation between the relevant susceptible gene and HLA linkage.
Methods: To investigate of the genetic epidemiology among some throngs of pure Miao nationality in western Human and the neighbouring areas was carried out and analysis of identical HLA haplotype and Lods was made.
Results: The population morbidity of this disease in this area is 0.48%. Twenty-four patients found in four families had high plasma glucose levels, and apparently high serum total iron and serum transferrin. The prevalence of hemochromatosis was 44.45% by analysis on the first degree and second degree relatives of the 24 patients. The individual marking of HLA ranges from locus A1, A2 to A3.
Conclusion: HLA haplotype shows obvious deviation from random distribution, which indicates that there exists linkage between HH pathogenic gene and HLA. The results of genetic analysis in this disease group suggest that hemochromatosis is an autosomal dominant inheritance but not autosomal recessive inheritance disease.