Summary. We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous b thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in b thalassaemia.

Few studies are available on left ventricular diastolic function in beta-thalassemia major, and these have conflicting results. Our aim in this study was to analyze myocardial systolic and diastolic functions in patients with beta-thalassemia major using, for the first time, pulsed Doppler tissue imaging (DTI), and compare data with standard Doppler echocardiography. We studied 30 young patients with beta-thalassemia major (age

Two hundred and thirty-eight subjects of both sexes, age range 7.5 months-16 years, with iron deficiency (ID), were included in a retrospective review of ID causes, to determine the best treatment. Inadequate iron intake was the cause of ID or iron deficiency anemia (IDA) in 59 subjects from the first months of life to adolescence. Blood loss linked to cow's milk intolerance was the cause of ID or IDA in 37 younger children. Meckel's diverticulum (MD) (6 cases), reflux esophagitis (RE) (10 cases), some drugs such as acetyl salicylic acid (11 cases) induced bleeding with ID or IDA in children and adolescents. In pubertal females with ID or IDA, polymenorrhea was observed in 16 cases. Coelic disease (CD) (37 cases), Helicobacter pylori infection (HPI) (39 cases), association of HPI and CD (8 cases), enteromonas infection (15 cases), determining particularly malabsorption, were causes of ID or IDA in patients of a wide age range, unresponsive to iron therapy. Our findings show that iron replacement therapy was not always required and should not be prescribed until the diagnosis is certain.

Recent reports have suggested, particularly in adults, an association between Helicobacter pylori infection (HPI) and chronic idiopatic thrombocytopenic purpura (cITP) with improvement of platelet count after eradication therapy. We investigated the association of HPI and cITP and the effect of HP eradication therapy on thrombocytopenia in a population of 24 children of both sexes mean age 8.0+/-0.28 years (range 5.4-10.7 years), affected by cITP (PLT 0.05). Non-significant differences were found in platelet count between infected and uninfected patients before eradication treatment (PLT 33.0+/-2.8 x 10(9)/l versus 34.0+/-5.75 x 10(9)/l) (P>0.05), while significant differences were observed after eradication therapy (PLT 315.0+/-7.07 x 10(9)/l versus 43.5+/-2.12 x 10(9)/l) (P<0.05). HP assessment should be performed in all cITP patients and eradication therapy should be attempted in positive cases.