Sarcoidosis presenting as massive splenomegaly and bicytopenia

✍ Scribed by Haran, Michal Z.; Feldberg, Edith; Miller, Galit; Berrebi, Alain

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 170 KB
• Volume: 63
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(200004)63:4<232::aid-ajh15>3.0.co;2-v

✦ 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.