Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America.
This study aimed to determine differences in the rates of growth, endocrine- and 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 23.2 years (range 6.1-75 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 = -0.73 +/- 1.24). 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. 12.8% 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.
Vogiatzi
Maria G
MG
Department of Pediatrics, Pediatric Endocrinology, New York Presbyterian Hospital/Weill Medical College of Cornell, New York, NY 10065, USA. mvogiatz@med.cornell.edu
Macklin
Eric A
EA
Trachtenberg
Felicia L
FL
Fung
Ellen B
EB
Cheung
Angela M
AM
Vichinsky
Elliott
E
Olivieri
Nancy
N
Kirby
Melody
M
Kwiatkowski
Janet L
JL
Cunningham
Melody
M
Holm
Ingrid A
IA
Fleisher
Martin
M
Grady
Robert W
RW
Peterson
Charles M
CM
Giardina
Patricia J
PJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D002118:Calcium / Q000097:blood; D002648:Child; D003430:Cross-Sectional Studies; D005260:Female; D005293:Ferritins / Q000097:blood; D006130:Growth Disorders / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications / Q000503:physiopathology; D016014:Linear Models; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone / Q000097:blood; D015995:Prevalence; D013002:Somatomedins / Q000032:analysis; D013789:Thalassemia / Q000150:complications* / Q000453:epidemiology* / Q000378:metabolism / Q000503:physiopathology; D014481:United States / Q000453:epidemiology; D014808:Vitamin D Deficiency / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D055815:Young Adult
D015415:Biomarkers; D010281:Parathyroid Hormone; D013002:Somatomedins; D013006:Growth Hormone; D005293:Ferritins; D002118:Calcium