ESPE Abstracts

Introduction: Beta thalassemia major (BTM), a hereditary haemoglobinopathy due to a deficiency in the synthesis of beta-globin, leads in the homozygous state to severe anemia requiring regular transfusions associated with chelator treatment. The endocrine complications encountered in BTM, secondary to martial overload by direct damage to the glandular parenchyma, continue to be observed in our consultations, although early and well-managed chelation can reduce their frequency and delay their appearance. Among these complications, hypoparathyroidism (HPT) is rarely found.

Case report: A 20 year old female patient presented with BTM since the age of 6 months, under regular transfusion regime without adequate chelation therapy due to its unavailability. She presented in consultation for repeated malaise with lipothymia where a prolongation of the QT space was found on the ECG. The etiological diagnosis revealed severe hypocalcemia (corrected calcinemia 45mg/l) with low PTH. Further investigations revealed hypogonadotrophic hypogonadism, primary hypothyroidism, vitamin D deficiency and osteoporosis. Martial overload was confirmed with a ferritin level of 5044 ng/dl. The patient was put on vitamin-calcium treatment, thyroid and gonadal replacement therapy. Bisphosphonates were proposed after normalization of the phosphocalcic balance.

Conclusion: Hypoparathyroidism manifests itself beyond the 2nd decade in BTM patients, often asymptomatic, but sometimes reveals itself by a decompensated cardiomyopathy. The seriousness of such consequences underlines the importance of monitoring the phosphocalcic balance once a year from the age of 10 years in all BTMs.