Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up.
At age of 3.2 years routine blood analysis showed the presence of a beta-thalassemic trait with unexpected high level of serum iron and high transferrin saturation. Hematological follow-up confirmed the moderate degree of anemia and persisting high levels of iron indices throughout the years with a progressive increase of serum ferritin. At the age of 19 years the patient was diagnosed homozygous for HC63D HFE. The patient referred by us confirm the possibility of precocious alteration of iron indices in patients with heterozygosity for beta-thalassemia inherited together with HFE mutations. This observation suggests that any children with thalassemic trait with increased transferrin saturation and/or serum ferritin might be investigated for the presence of the hemocromatosis genes in order to detect the disease before any clinical manifestation and even before organ iron loading.
Miniero
Roberto
R
Department of Clinical and Biological Sciences, Department of Clinical and Biological Sciences, Orbassano (TO) Italy.
Tardivo
Irene
I
Roetto
Antonella
A
De Gobbi
Marco
M
D000367:Age Factors; D002675:Child, Preschool; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D008137:Longitudinal Studies; D008297:Male; D020125:Mutation, Missense; D014168:Transferrin / Q000032:analysis; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*
D006454:Hemoglobins; D014168:Transferrin; D005293:Ferritins; D007501:Iron