Patients with thallasemia major are at risk for transfusional iron overload that has deleterious effects on cardiac, hepatic and endocrine organs. Although, cardiac problems account for the majority of mortalities among these patients, endocrinological abnormalities have important morbidities and effects on life-quality. There is limited data on the endocrinological problems among adult patients.


Adult patients with transfusion dependent thalassemia were evaluated cross-sectionally for endocrinological abnormalities. Patients were evaluated with blood tests including, fT4, TSH, PTH, Ca, P, Vitamin D, IGF-1, oral glucose tolerance test (OGTT), FSH, LH and estradiol in females and testosterone in males. Anthropometric evaluations were also recorded. Bone mineral density measurements with the DEXA in lumbar and femoral locations were also evaluated.


A total of 40 patients (24 females) were included. The mean age of the study group was 31.4±6.7 years. The rates of hypothroidism and hypothyroidism were found as 10.3% and 15.4%, respectively. The prevalence of diabetes and pre-diabetes were found as 5.4% (n=2) and 34.3% (n=11) by OGTT. The mean height of the male and female patients were 164.5±9.2 and 154.9±6.2 cm, respectively and were below average height of normal Turkish correspondences (males: 173 and females 162 cm). The median age of puberty was 17.5 years for males and 15 for females and were delayed compared to normal Turkish population (11.6 years for males and 12.2 years for females). The history revealed the need for puberty induction in 15 (37.5%) and of the all patients included 21 (52.5%) were detected to have hypergonadotropic hypogonadism. Six (15.8%) had an off-spring. And three of these patients achieved to be parents through assisted reproductive technologies. Serum IGF-1 levels were found low in 26 (63.5%) of the patients and 27 (71%) were found to have low vitamin D levels. Bone mineral density measurements with the help of DEXA revealed osteoporosis in 8 patients and history revealed osteoporotic bone fractures in seven of the patients.


The endocrinopathies are common in patients with thalassemia major and the patients need close monitoring for these abnormalities. Appropriate chelation use may prevent most of these endocrinopathies; however some of these problems such as osteoporosis is not only related to chelation but more commonly related to disease itself. The adult patients need regular follow-up for the development of endocrinopathies and the treatment of these endocrine abnormalities may prevent the morbidities such as osteoporosis-related bone fractures and improve quality of life, as well.


No relevant conflicts of interest to declare.

Author notes


Asterisk with author names denotes non-ASH members.

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