?-thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene
Year: 2000
Type: article
Abstract: To the Editor: The association between hereditary hemochromatosis and thalassemia syndrome might lead to a severe iron overload [1,2], but the results are still controversial. By PCR and restriction enzyme digestion [3], we analyzed the C282Y and H63D mutations in the HFE gene in one family whose propositus carried the -thalassemia trait. The patient was a female, 38 years old, presenting weakness and arthralgia. She had 4 children and received transfusion (1 unit of red cell) during her last gestation. She did not present diabetes or cardiac disease and her hepatic enzymes were normal. Her mother and 2 sons also carried the -thalassemia trait.
Source: American Journal of Hematology
Institution: Universidade Estadual de Campinas (UNICAMP)
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2062691976