Overview of endocrinopathies associated with β-thalassaemia major.
BACKGROUND
Thalassaemia major is a common and serious medical problem worldwide that is associated with a range of complications, including effects on multiple endocrine pathways. Minimizing or preventing comorbidities is important for these individuals who need life-long multidisciplinary care and treatment. However, there are limited overviews of the endocrine complications associated with this illness, nor any consensus regarding management guidelines.


METHODS
A retrospective cohort analysis of β-thalassaemia patients attending an ambulatory transfusion clinic at Royal Prince Alfred Hospital was conducted from June 2008.


RESULTS
All of our subjects (n=29) had at least one endocrinopathy present with 16 patients (55%) having three or more (≥3) endocrinopathies. Hypogonadism was the most prevalent followed by osteoporosis and growth failure (less than 3rd centile) with a frequency of 16/29 (55%), 14/29 (48%) and 10/29 (35%) patients respectively. Those with more endocrinopathies (≥3) had a longer duration of transfusion therapy when compared with those with fewer endocrinopathies.


CONCLUSIONS
A summary of our clinical guidelines, which have been used to monitor and manage these complications, is presented along with a discussion on the results and pathophysiology of the associated endocrinopathies.
Perera
N J
NJ
Department of Endocrinology and Institute of Haematology, Royal Prince Alfred Hospital and Institute of Obesity Nutrition and Exercise, University of Sydney, Sydney, New South Wales, Australia. nimalie.perera@email.cs.nsw.gov.au
Lau
N S
NS
Mathews
S
S
Waite
C
C
Ho
P J
PJ
Caterson
I D
ID
D000328:Adult; D015331:Cohort Studies; D015897:Comorbidity; D004700:Endocrine System Diseases / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male; D017410:Practice Guidelines as Topic / Q000592:standards; D012189:Retrospective Studies; D017086:beta-Thalassemia / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy