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Transfusion program and chelating therapy treatment has extended the life expectancy of thalassaemic patient; osteoporosis is considered an important cause of morbidity in adult patients who display increased fracture risk. This is a case report is about a thalassaemic young female with multiple spine fractures (D11, D12 e L2) and lumbar spine DEXA - T score = -3,1 and femoral = -3,4. This was in spite of therapy with alendronate 70 mg/week from January 2006 to September 2007. The patient was subsequentently treated for 18 months with 1-34 recombinant human parathyroid hormone and colecalciferol (100.000 U/monthly). After 4 months of therapy, the patient showed a decrease in spinal pain (Roland and Morris Disability Questionnaire) and an improvement of quality of life (Qualeffo) with normalization of osteocalcin and 25-OHcolecalciferol haematic levels after 6 months. Lumbar spine and femoral DEXA - Tscore, at 18 months, rose respectively to -2,5 and -2,4. Thalassaemia-induced osteoporosis is multifactorial and its management is very difficult. Bone marrow expansion, endocrine dysfunction, iron overload and genetic factors all seem to play important roles in the development of low bone mass in these patients. Bisphosfonates have been used in the management of thalassemia induced osteoporosis but there is no data about fracture risk. Anabolic therapy for thalassemic patients requests additional study on a large scale.

Background: The aim of this study was to underline, given the well-known incidence of beta thalassemia in Calabria, the possibility of establishing a prevention programme based on an increased awareness among the population using information and health education, genetic consultancy to identify high-risk subjects and prenatal diagnosis., Methods: Between January 1992 and December 1999, we analysed 181 high-risk couples for beta thalassemia using chorionic villi sampling (CVS) performed with an echoguided transcervical or transabdominal route. A steady rise was observed over the years in the number of couples asking for prenatal diagnosis, thus demonstrating that patients and doctors are increasingly aware of the importance of a correct prenatal diagnosis. The variability of molecular defects found and the number of complications linked to the technique used are underlined., Results: Prenatal diagnosis revealed 46 fetuses with the disease (24.8%), 97 heterozygotes (53.2%) and 41 healthy fetuses (22%). Only one malformation was observed in the 41 healthy fetuses. The authors also report the incidence of complications linked to CVS. In overall terms, 2.2% of pregnancies ended in spontaneous abortions (4 cases) and 2.75% with preterm births (5 cases). These complications could not be correlated with gestational age at the time of biopsy or the number of attempts made to obtain an appropriate sample.

We evaluated therapy complications in 19 beta-thalassemia major patients (mean age from 3 years/5 months and 1 years/6 months) who were followed at II Pediatric Department-University of Bari. 3 out of 19 patients underwent allogenic BMT from matched related donor; 2 out of 19 underwent splenectomy. All of them were receiving hypertransfusion therapy and continuous chelation with DFO. In all patients we performed physical examination, laboratory assays, cardiac and endocrinologic function tests, serum HBV-HCV-HIV antibodies, otoscopy and audiometric test, fundus oculi, skeletal x-ray. 1 out of 19 patients, who was under 15, had a slight dilatation of left ventricle and arythmia. All patients were HBsAb positive. 4/19 patients were HCV Ab positive (ELISA test) with an increase in ALT-AST serum levels since at least 6 months. In 3 of them we assessed RIBA test, always positive. 3 of them underwent liver biopsy (1 iron overload 2 chronic active hepatitis). All patients were HIV Ab negative. 4/15 patients revealed low GH levels after Arginina test. 13 pre-pubescent patients had normal results with GNRH test but lower results after FSH test. 1 pubescent patient had gonadotropic hypophyseal deficit. 4 patients had subclinic hypothiroidism. We couldn't find any sequelas in bone-eyes-ears. Hypertransfusion therapy, chelation, profilaxis of infections improved length and quality of life in thalassemic patients. Hypogonadotropic hypogonadism remains a serious sequela and we think it needs to be treated.

The pathological conditions characterized by microcytosis are reviewed and their pathophysiological mechanisms also at the molecular level are described. Moreover clinical, haematological and laboratory findings for differential diagnosis are discussed. Finally, the most efficacious schedules for the treatment of iron deficiency anaemia are reported.

The KBB acid elution test is used to assess the presence and extent of transplacental passage of fetal cells into the maternal circulation both as a diagnostic aid in detecting hemorrhage before birth and in monitoring pregnancies at risk for hemolytic disease of the newborn. However the technique is ineffective when an hereditary Hb-pathy with associated increase in HbF is present in the mother, like the HPFH, delta-beta thalassemia and other hereditary abnormal hemoglobins. A mother with HPFH and another mother with delta-beta thalassemia with false positive result of the acid-elution test are described and the need for an extension of the clinical and laboratory study in families with hereditary HbF disorder is stressed.