Words similar to hemochromatosis
Example sentences for: hemochromatosis
How can you use “hemochromatosis” in a sentence? Here are some example sentences to help you improve your vocabulary:
Probands were included who had: a) diagnosis of hemochromatosis in routine medical care during the interval 1997 - 2001; b) C282Y homozygosity; c) available HLA-A and -B typing; and d) residence in central Alabama.
Taken together, these observations could explain the occurrence of CVID or IgGSD and hemochromatosis due to HFE C282Y homozygosity in some of the present index patients [ 26 ] and account for the occurrence of IgA deficiency and hemochromatosis in different members of the same family [ 27 ] .
Nonetheless, the percentage of the present probands who were HLA-haploidentical with at least one other proband indicates that the haplotypes among hemochromatosis patients in central Alabama are more restricted than those in the general population [ 46 47 ] .
This disorder is typically associated with homozygosity for the C282Y mutation of the HFE gene (exon 2, nt 845 G→A) on Ch6p [ 1 ] . C282Y lies within an ancestral haplotype which includes the human leukocyte antigen (HLA) haplotype A*03-B*07 [ 2 3 4 5 ] . The ancestral haplotype is the predominant hemochromatosis-associated haplotype in many northwestern European countries, including Ireland [ 6 ] , Brittany [ 2 ] , Denmark [ 7 8 ] , Sweden [ 9 ] , and Germany [ 10 11 ] . This is attributed to the origin of the C282Y mutation on an A*03-B*07 haplotype in northwestern Europe and its early dissemination by Vikings [ 3 12 ] . Modification of the ancestral chromosome by recombination and admixture as a result of geographic migration explains the occurrence of chromosomes bearing C282Y in association with different HLA haplotypes [ 2 4 8 13 14 15 16 ] . Thus some non-ancestral haplotypes also occur with significantly increased frequencies in hemochromatosis patients in various countries in Europe and in descendants of Europeans [ 5 16 ] .
A presumptive diagnosis of hemochromatosis was established using an elevated transferrin saturation criterion; each proband was subsequently evaluated for iron overload and its complications [ 21 22 23 ] . All probands in the present study were white adults (> 18 years of age).