Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications

Abstract

Objective. Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications in β-TI adult patients. Methods. We studied retrospectively 70 β-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) from T2*, transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry. Results. Thirty-seven (53%) males and 33 (47%) females were studied, with mean age 41 ± 12 years, mean haemoglobin 9.2 ± 1.5 g/dL, median ferritin 537 (range 14–4893), and mean LIC 7.6 ± 6.4 mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%). Discussion and Conclusions. Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development.

Early development of decreased β‐cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia

“…Insulin resistance has been extensively studied among patients with TDT (mainly β‐thalassemia major), and it is known to be related to the severity of iron overload . Meanwhile, studies in NTDT patients (mostly β‐thalassemia intermedia) with iron overload reported variable prevalence of impaired glucose tolerance and DM . However, there are no previous data specific to the role of iron overload in insulin resistance among patients with Hb H disease.…”

“…Previous studies in adults with NTDT that mainly focused on β‐thalassemia intermedia reported a variable prevalence of impaired glucose tolerance (2.9%‐24%) and DM (1.4%‐4.5%)—both of which were found to be associated with iron overload . However, such studies have been rarely reported in α‐thalassemia hemoglobin H (Hb H) disease, which is the most common form of NTDT worldwide .…”

“…Previous studies in adults with NTDT that mainly focused onthalassemia intermedia reported a variable prevalence of impaired glucose tolerance (2.9%-24%) and DM (1.4%-4.5%)-both of which were found to be associated with iron overload. [18][19][20][21][22][23] However, such studies have been rarely reported in -thalassemia hemoglobin H (Hb H) disease, which is the most common form of NTDT worldwide. 24 The previous study reported the prevalence of DM to be 5.6% among adults with Hb H disease 25 ; however, there are no data specific to how early this glucose dysregulation develops.…”

Radiological and clinical difficulties in the management of chronic maxillary sinusitis in β Thalassemic paediatric patients

“…Actually we believe that is important to define a ''thickening'' of bone, as a bone marrow hyperplasia, according to the pathogenesis of Beta-Thalassemia Major in order to avoid redundant surgery [40] or antibiotic treatment abuse in these critical patients [41][42][43][44].…”

Morbidities in non‐transfusion‐dependent thalassemia

“…The factors underlying these differences have not been well studied. The slower rate, lower extent, and hepatic predominance of iron loading in NTDT as compared to TDT are potential factors that could explain the differences in prevalence of endocrinopathies . Factors thought to correlate with endocrinopathies in patients with NTDT include splenectomy, the severity of ineffective erythropoiesis, and lower levels of fetal hemoglobin (HbF) .…”