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?-thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene

✍ Scribed by Arruda, Valder R.; Agostinho, Marcela F.; Can�ado, Rodolfo; Costa, Fernando F.; Saad, Sara T.O.

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
170 KB
Volume
63
Category
Article
ISSN
0361-8609

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✦ Synopsis

With the C282Y Mutation in the HFE Gene

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.

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