Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

Abstract

Abstract:Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low production of the hormone hepcidin, which leads to an increase in intestinal absorption and excessive iron deposition in the parenchymal cells. To the best of our knowledge, there have been no reports on the coexistence of the two disorders in China. We herein report a case in a Chinese who presented with late-onset hepatic cirrhosis with hereditary hemochromatosis and β-thalassemia. We analyzed the pedigree of the two disorders and the iron status in his family members. Our case supports that a heterozygous H63D mutation can interact with β-thalassemia, leading to late-onset hemochromatosis.

Hemochromatosis in a β‐thalassemia minor patient with H63D homozygous mutation: A case report

“…They found the mean ferritin levels to be 389 ± 75 µg/L (mean ± SD) in homozygotes for the H63D mutation. However, Yang et al 11 found differing conclusions in a review of similar studies that investigated the effect of H63D mutations on iron load in β‐thalassemia major or carrier conditions. Some studies from Italy, Portugal, India, and Egypt suggested that the interacting effect of β‐thalassemia with homozygous or even heterozygous H63D mutations might lead to iron overload; other reports from Italy, India, Thailand, Brazil, and Spain indicated that the iron status was not related to H63D mutation.…”

Hemochromatosis in a β-thalassemia minor patient with H63D homozygous mutation: A case report

“…They found the mean ferritin levels to be 389±75 mcg/L (mean±SD) in homozygotes for the H63D mutation. However, Yang et al 11 found differing conclusions in a review of similar studies that investigated the effect of H63D mutations on iron load in β-thalassemia major or carrier conditions. Some studies from Italy, Portugal, India, and Egypt suggested that the interacting effect of β-thalassemia with homozygous or even heterozygous H63D mutations might lead to iron overload; other reports from Italy, India, Thailand, Brazil, and Spain indicated that the iron status was not related to H63D mutation.…”