PSUN160 Transfusion Related Endocrinopathies and Thalassemia (TREAT) Study

Abstract

Abstract Thalassemia (Thal), the most common form of inherited anemia worldwide, may require regular blood transfusions and life-long medical care. The introduction of oral chelators and imaging methods to monitor iron overload transformed Thal from a rapidly fatal disease of childhood to a chronic illness compatible with prolonged life expectancy. Regular blood transfusions resulting in tissue iron overload and oxidative stress may lead to liver disease and polyendocrinopathy. In this observational descriptive study, we described the patient characteristics and prevalence of endocrinopathies (growth failure, hypothyroidism, hypogonadism, low bone mass, and impaired glucose intolerance) in a contemporary group of transfusion dependent Thal patients cared for our tertiary care center since 2000. A total of 253 transfusion dependent Thal patients were identified. Of those patients, 51.8% were female; 22% (n=56) were adopted, mainly from China. The following ethnicities were represented: Chinese 19.9%, Indian 12.6%, Laotian 7.8%, Asian 7.8%, Italian 7.8%, Vietnamese 3.9%, Afgani 3.4%, Pakistani 3.4%, Thai 2.9%, Greek 2.4%, Cambodian 2.4%, Filipino, Caucasian, Iranian 1.9% each. Majority of the diagnoses were Beta Thal Major (69.9%), followed by E Beta 0 Thal (14.6%). The median age at first visit was 10.6 years (IQR1-IQR3: 2.2-25), last visit was 27 years (IQR1-IQR3: 12.1–39.4) with 33.5% of the patients ≤18 years of age. Median follow-up time was 10 years. Median final adult height (height z-score) for females was 159.5 cm (-0.53) (IQR1-IQR3: 152.4,160.3cm; height z-score: -1.68, -0.47) and for males 167.5cm (-1.3) (IQR1-IQR3: 161.5, 171cm; height z-score: -2.13, -0.81). Only, 16.5% (n=14) of children were on growth hormone treatment due to low-normal growth hormone surrogates or peak growth hormone <10ng/ml in growth hormone stimulation test. Hypothyroidism was diagnosed in 9.9% (n=25) of the patients and 5 patients had central hypothyroidism. Hypogonadism was diagnosed in 32.4% of adult female (n=24), and 44.6% of adult male (n=29) patients who were subsequently prescribed sex steroid replacement. Low bone mass in those with z-scores ≤2.0 was noted in 22.9% (n=43) female and 26% (n=49) males. The mean bone mineral density z-score for spine was -2.1±1.1 for females and -2.5±1.3 for males. Either impaired glucose tolerance or insulin-dependent DM was observed in 29% of the patients (n=54). Endocrinopathies are common and continue to be a significant morbidity in transfusion dependent Thal patients despite improved chelation agent availability and tissue iron monitoring. Future long-term longitudinal and intervention studies elucidating and mitigating potential effects of iron overload on developing children's developing endocrine organs are needed. Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.