We evaluated the final height and the endocrine complications encountered in young adult patients with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC) in non-transfused versus infrequently transfused TI patients.
Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology clinic, National Centre for Cancer Care and Research, Hamad Medical Corporation of Doha (Qatar).
Group 1 included 9 patients who did not receive any blood transfusion and Group 2 included 19 patients who infrequently received a blood transfusion.
Data recorded from charts included demographic characteristics, transfusion frequency, history of chelation therapy, and splenectomy), auxological and pubertal data [growth percentiles and pubertal stages, and body mass index (BMI), laboratory data and target organ complications (including endocrinopathies and liver disease). Iron overload was assessed by direct (liver iron content; (LIC) and indirect methods; serum ferritin (SF), and bone mass index (BMA) by dual-energy X-ray absorptiometry (DXA).
Results: Short stature [Final Height (Ht) SDS < -2] occurred in 25% of patients with no difference between the two groups of patients. (IGF-1) SDS was low in 35.7 % of patients with no statistical difference between the two groups. Impaired fasting blood glucose occurred in 17.8% of patients, diabetes mellitus in 25% and hypogonadotropic hypogonadism in 10.7% of them. Morning cortisol was low in one patient. No thyroid or hypo-parathyroid abnormalities were detected in any patient. Liver iron content (LIC) > 15 mg/g dry weight and SF > 2,000 ng/mL were detected in 75% of the patients. Both LIC and SF were significantly higher in the transfused group (Group 2). High liver enzyme level (ALT) was detected in 42.8 % of patients. .Total and fetal Hb was significantly higher in group 1 versus group 2. Osteopenia was diagnosed in 14.3% of patients. Females had significantly better final height SDS, higher IGF-1 SDS, lower LIC and fasting blood glucose level compared to males. Ht-SDS was correlated significantly with IGF-1 SDS. LIC was correlated significantly with the SF level. ALT concentrations were correlated significantly with LIC and SF levels. Total and fetal Hb did not correlate significantly with Ht-SDS or IGF-1 level.
Conclusions: A significant number of TI patients have high LIC, short stature and endocrine disorders. We also recommend close monitoring of endocrine and other complications, according to the international guidelines.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology