[Alpha 1-antitrypsin in thalassemia major].
The authors investigated a possible relationship between alpha 1-antitrypsin (alpha 1AT) phenotypes, serum levels of alpha 1AT and liver disease in transfusion dependent thalassemia major subjects. The distribution of alpha 1AT phenotypes suggest the absence of association between alpha 1AT variants and thalassemic genes and underlines again the low incidence of pathologic variants in Italian population. Mean concentration of alpha 1AT was significantly increased in thalassemic patients and was not related to transaminase levels. These results show that other factors are responsible for the development of liver disease in transfusion dependent thalassemic subjects.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism
D000515:alpha 1-Antitrypsin
L'alfa 1-antitripsina nella talassemia major.