Overview
Patients with hemochromatosis or Thalassemia develop progressive tissue and organs damages secondary to iron overload. Iron overload can result both from transfusional hemosiderosis and excess gastrointestinal iron absorption. Iron deposition in the heart, liver, and multiple endocrine glands results in severe damage to these organs, with variable degrees of endocrine and organ failure.
Although patients with iron overload often present endocrine disorders, the pathogenetic mechanisms underlying endocrinopathies are not completely clear. In particular it is not elucidated if the spectrum of endocrinopathies could change with advancing age. All endocrinological comorbidities can develop from a primary damage of the target gland, from pituitary secondary failure or from both.
The aim of this study is to investigate the prevalence of endocrinological diseases in adult patients with iron overload due to β-thalassemia or hemochromatosis and their impact on well-being and quality of life.
The study design is a prospective cross-sectional clinical study. All subjects enrolled will be evaluated for the endocrine diseases. The study protocol will include data collection from family and patients' history of diseases, physical examination, hormonal assessment for all endocrine axes and instrumental examinations.
The results will provide evidence on the prevalence of endocrine diseases in patients with iron overload and will add information to characterize the type and the degree of endocrine deficiencies, and on the pathogenic mechanisms involved, in order to individualize diagnostic and therapeutic approaches.
Eligibility
Inclusion Criteria:
- Certain diagnosis of β-thalassemia major or intermedia
- Certain diagnosis of Hereditary Hemochromatosis
- Adult patients with an age between 18 and 65 years
Exclusion Criteria:
- Subjects with an age < 18 and > 65 years