Growth impairment is commonly seen in children with thalassemia despite regular blood transfusions and desferrioxamine treatments. We investigated the growth velocity of 26 prepubertal patients with beta-thalassemia or HbE-beta thalassemia who were transfusion dependent aged between 2 and 13 years. The prevalence of impaired growth velocity (ie, growth velocity less than the third percentile) amongst the transfusion dependent prepubertal thalassemics was 57.7% compared to 19.2% in the control group. The mean height velocity of the thalassemics was 11.1% less than controls but this difference was not statistically significant (4.23cm/year vs 4.76cm/year, p = 0.08). The mean serum ferritin level of the thalassemics with a height < 3rd percentile was higher compared to those with a height > 3rd percentile (4,567.0 vs 2,271.0, p = 0.01). Our study showed that there was a high prevalence of impaired growth velocity amongst our transfusion dependent prepubertal thalassemics. This highlights the problem of inadequate chelation therapy, and compliance with chelation therapy amongst our patients. This study emphasizes the importance of monitoring growth parameters and optimal iron chelation therapy in these patients.
Beta-thalassemia in West Malaysia is caused by 14 molecular defects with differing clinical severity. In Chinese patients from West Malaysia, the main beta-thalassemia mutations seen were (a) a 4 base pair-TCTT deletion in codon 41-42 [frameshift mutation (FSC 41-42)]; (b) a C to T substitution at the second intervening sequence (IVS2-654); (c) an A to G substitution in the TATA box [-28 (A to G)], and (d) an A to T substitution in codon 17[17 A to T]. In the Malays, the main mutations seen were (a) a G to C in nucleotide 5 at the intervening sequence I [IVS1-5 (G to C)]; (b) G to T substitution in nucleotide I at the intervening sequence I [IVS1-1 (G to T)]; (c) a A to T substitution in codon 17 (17 A to T); (d) removal of C from codon 35 [codon 35 (-C)], and (e) a 4 base pairs-TCTT deletion in codon 41-42 [frameshift mutation (FSC 41-42)]. A scoring system (Tha1 CS) has been formulated to predict clinical severity. It is the type of beta-thalassemia mutation present that decides on the clinical phenotype. The most severe beta-thalassemia mutation is assigned a score of 4. A score of 8 indicates severe thalassemia.
Thalassemia and the blood transfusion complications associated with it predispose children to poor bone health. This study was conducted to determine the prevalence of bone-related abnormalities and identify the bone health predictors within this population. One hundred and forty transfusion-dependent beta thalassemic subjects 8-18 years old in Mashhad, Iran, participated in this cross-sectional study. Anthropometric measures, dietary intake, bone-related biomarkers and bone densitometry, were assessed. The incidence of underweight and short stature was 33.6 and 41.4 %, respectively, which were indicators of malnutrition among thalassemic subjects in this study. Low bone density was detected in the lumbar spine and femoral region in 82 and 52 % of subjects, respectively. Hypocalcemia and hypophosphatemia were seen in 22 and 18.2 %, whilst vitamin D deficiency was present in more than 85 % of thalassemic children and adolescents. The relationships between weight, height and other anthropometric indices, serum calcium and bone markers, intake of macronutrients, zinc and vitamin E with bone mineral density (BMD) and bone mineral content (BMC) in the lumbar spine and femoral area were positively related, indicating that better nutritional status were associated with higher BMD and BMC values. Puberty, gender and serum osteocalcin were negative predictors for BMD and BMC values, whereas age, weight and height were the positive predictors. High incidence of low bone density and deficit in other aspects of bone health among thalassemia patients makes routine bone health assessment necessary for this vulnerable group. Considering influencing factors, dietary counseling and preventive supplementation therapy for this high risk group of children and adolescents may be necessary, although this should be assessed by intervention studies.