Beta(+)-thalassemia with hemochromatosis.
A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7 g/dl, mean corpuscular volume 82 fl, and ferritin 2,360 ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of beta-thalassemia was suggested by a decreased ratio of beta/alpha-globin synthesis in vitro (0.26). Cloning of the beta-globin gene showed A-to-G mutation in the first base of the ATA box. He was confirmed to be homozygous for this specific allele by beta-gene complex analysis and analysis of Southern blot hybridization of the alpha- and beta-globin genes. His two sons were confirmed to be heterozygous for this allele.
Department of Internal Medicine, Hokushin General Hospital, Nagano, Japan.
M
M
Uchihara
T
T
Nouchi
T
T
Harano
M
M
Yamane
H
H
Sakai
K
K
Takabe
S
S
Mae
S
S
Maekawa
T
T
Fukuma
Y
Y
Miyahara
D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D005293:Ferritins / Q000097:blood; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006432:Hemochromatosis / Q000209:etiology*; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D014057:Tomography, X-Ray Computed; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D005914:Globins; D004247:DNA; D005293:Ferritins