Endocrine Abstracts

JOINT2679

Introduction: Thalassemia is the commonest haemoglobinopathy in Sri Lanka. Beta thalassemia major (BTM) and severe E beta thalassemia (EBT) are classified as transfusion-dependent thalassaemia (TDT). Most TDT patients are iron overloaded due to increased red cell lysis, inefficient erythropoeisis, recurrent blood transfusions, and increased iron absorption. Tissue deposition of iron may lead to multiple endocrine organ dysfunction.

Objectives: We aimed to establish the following in TDT patients (2-18 years) attending the National Thalassaemia Unit (NTU), Kurunegala, Sri Lanka.

1. The prevalence of endocrinopathy and iron overload.

2. The relationship between frequency of transfusion and serum ferritin levels

3. The relationship between dose and type of chelation therapy

Methods: We carried out a retrospective database analysis of all subjects attending the NTU with TDT who were between the ages of 2-18 years. Data were collected from patient medical records. Individual endocrinopathies were identified using standard clinical and biochemical criteria as set out in current guidelines. Summary statistics were compared between groups using appropriate statistical tests.

Results: 261 subjects with TDT were eligible for analysis (a) 204 (78%) had BTM [median age 11 years (IQR=6.75-14)], and 57 (22%) had severe EBT [median age 12 years (IQR=8-14)]. There was no significant sex difference between the two groups. The transfusion frequency was – (i)BTM; median 3 weeks (ii) EBT; median 4 weeks, Chelation therapy was commenced– (i)BTM; median age 3 years (IQR=2-4) and (ii) EBT median age 4 years (IQR=3-6), (P = 0<0.05). (b)Prevalence of following endocrinopathies was as follows (1) Short stature in 106/213 (49.8%) in children ≥8 years (2) Pubertal delay 35/106 (33%) in females >13 years and males >14 year; puberty was initiated in 71 (67%) and later arrested 6 (n = 71). (3) Primary hypothyroidism in 17/261 (6.5%) (4) Adrenal insufficiency in 2/261 (0.76%) (5) Hypoparathyroidism in 7/261 (2.7%) (6) Diabetes Mellitus in 2/261 (0.76%) (c) Transfusion frequency and volume and serum ferritin in subjects with endocrinopathies 118/261 patients (45.2%). (1) Three weekly transfusion 61/118 (51.7%) (2) Median transfusion volume at present 4746ml/year (IQR= 3464-5811). (3) Median serum ferritin was 1377ng/mL (IQR=934-1945) (3) Median Deferasirox and median Deferoxamine doses were 33.5 mg/kg/day (IQR=30.91-35.96) and 33.46mg/kg/day (IQR=32.32-38.04) respectively.

Conclusions: In this study 45 % patents with TDT had endocrinopathies. Short stature and pubertal delay were the most common endocrinopathies encountered in TDT subjects in this study. Our study revealed patients with endocrinopathies had high serum ferritin with inadequate dosing of iron chelation.