Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America

Abstract

SummaryThis study aimed to determine differences in the rates of growth, endocrineand calcium-related abnormalities in the various thalassemia syndromes in North America treated with current therapies. Medical history, physical examinations and blood and urine collections were obtained from patients with all thalassemia syndromes age 6 years and older in the Thalassemia Clinical Research Network. 361 subjects, 49% male, mean age 23AE2 years (range 6AE1-75 years) were studied. Approximately 25% of children and adults, regardless of the thalassemia syndrome, had short stature. Overall growth in children was mildly affected. Final height was close to midparental height (z = )0AE73 ± 1AE24). Patients with beta thalassemia major (TM) had higher rates of hypogonadism, multiple endocrinopathies, worse hyperglycaemia, subclinical hypoparathyroidism and hypercalciuria. Hypogonadism remained the most frequent endocrinopathy and was frequently under-treated. 12AE8% of the subjects had 25 vitamin D concentrations less than 27 nmol/l and 82% less than 75 nmol/l, regardless of the thalassemia syndrome. Adolescents had lower 25 vitamin D levels than children and adults. Compared to patients with other thalassemia syndromes, those with beta TM suffered from higher rates of multiple endocrinopathies, abnormal calcium metabolism and hypercalciuria. Vitamin D abnormalities were high among adolescents.

Complications and treatment of patients with -thalassemia in France: results of the National Registry

“…[5][6][7][8][9] In our study, in agreement with the findings of Vogiatzi et al, the type of thalassemia (TM versus TI) does not significantly influence final height or weight although one would expect better final height in patients with TI. 10 Furthermore, although significant differences were seen in the prevalences of splenectomy, cholecystectomy and parenthood between non-transplanted TM and TI patients, these differences did not remain statistically significant after adjustment for age.…”

“…9 Finally, the similar rate of parenthood observed in TI and TM patients could be explained by a global improvement in the clinical care of TM patients including the use of assisted reproduction in TM, which affects fertility. 5,8,9 In contrast, the prevalence of HCV infection and serum ferritin levels remained significantly different between the patients with the two types of thalassemia after adjustment for age (P<0.001) as a consequence of the high rate of transfusion in TM.…”

Impact of Iron Assessment by MRI

“…[45][46][47] Future impact of MRI With routine cardiac screening, patients are now living long enough to encounter increasing iron-mediated endocrine morbidities. Diabetes, hypothyroidism, and hypogonadism remain common among thalassemia patients 2,48 and are probably underdiagnosed. The pituitary gland is perhaps the most important initial target for further study because it is easily injured and damage can be difficult to detect until puberty.…”

“…Hypogonadism occurs in approximately half of thalassemia patients and has long-term consequences for fertility, bone density, and quality of life. 2,48 Preclinical iron deposition can be detected using R2 techniques, 26 whereas severe iron deposition is associated with decreased response to gonatropin releasing hormone challenge. 26 Shrinkage of the pituitary gland is associated with more significant, irreversible loss of gonadotrophic production.…”

Knowledge, attitude, and preventive practice of major thalassemia patients regarding the importance of calcium and Vitamin D

“…[18,19] Compared to patients with other thalassemia syndromes, those with beta TM are reported to be at a higher risk of developing multiple endocrinopathies, abnormal calcium metabolism, and hypercalciuria. [20] Vitamin D abnormalities are also more common among these adolescents, as more than 80% of these patients are Vitamin D deficient. [21] Getting engaged in physical activity and following calcium-rich diet must always be encouraged in this group as adequate calcium and Vitamin D intake during skeleton development can increase bone mass in adult life.…”