Studies of bone mineral density in children affected by dietary intolerances

The Pediatric Department of the University of Ferrara has developed a special expertise in the field of hemoglobinopathies and has also an interest in gastrointestinal diseases. It has a long standing collaboration with the Department of Genetics of the University of Verona. The main fields of interest are thalassemia, gluten intolerance, and osteoporosis in its various aspects. Using our previous research experience as a platform, we plan to study Vitamin D metabolism, bone mineral density, the FGF23 and Klotho axis in patients with thalassemia, in patients with adult type lactose intolerance, in patients treated with antiepileptic drugs and in those who suffer from gluten intolerance. Finally, we intend to cooperate with another group (PP9) of the Trans2Care project in order to clarify the role of tissue antitransglutaminases in seronegative patients with symptoms of gluten intolerance

Thalassemia and the heartquake

On May 2012 the city of Ferrara and the surrounding region were hit by several earthquakes. We had the chance to observe the behavior of one thalassemic heart during the shocks, because of a 24-h electrocardiogram recording had been put in place a few hours before the shocks

Epidemiology and burden of Rotavirus-associated hospitalizations in Ferrara, Italy

Objective of this study was to provide data on hospitalizations for rotavirus gastroenteritis (RVGE) in Ferrara, Italy. The study was conducted analyzing the hospital discharge forms of all children admitted to the Pediatric Department of the University of Ferrara, Arcispedale Sant'Anna, from January 2001 through December 2005. The database was searched for all gastrointestinal diseases and in particular RVGE. During the period under study 3277 children, of which 2038 inf.60 months of age, were hospitalized; 247 children inf.5 years old were admitted for acute gastroenteritis and 89 (4.4% of all and 36% of gastroenteritis-related hospitalizations) had rapid screening tests positive for rotavirus. A seasonal pattern was observed for RVGE with an increase in winter and early spring. The average length of hospital stay was 5.7 days. The median cost of each hospitalized case of RVGE ranged between 1417 and 1595 Euros. The present research confirms that rotavirus gastroenteritis represents an important cause of hospitalization in children and is responsible for significant costs for the Public Health Care System. An effective vaccination program could significantly reduce the incidence of hospitalization and the associated costs

Subcutaneous bolus injection of deferoxamine in adult patients affected by onco-hematologic diseases and iron overload

Background and Objective. Chelation therapy is often necessary for patients who undergo chronic transfusion therapy for myelodysplastic syndromes. In these patients, deferoxamine, the most widely used chelating agent, has been reported to be effective in reducing the iron burden and the transfusion requirement. Unfortunately, compliance with the drug, that is usually administered by slow subcutaneous infusion via a battery operated pump, is often poor, especially in elderly patients

Beta-thalassemia

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload

Pakistani children’s experiences of growing up with Beta-Thalassemia Major

In this study, we explored the lived experiences of children with beta-thalassemia major (β-TM). We considered children as experts on their experiences in contrast to the prevalent approach of asking parents or other adults about children’s perspectives. The sample consisted of 12 children aged 8 to12 years. There were two stages to data collection. In Stage 1 we employed two focus group discussions and two role plays and analyzed the data thematically. This directly informed Stage 2, consisting of 12 in-depth interviews subjected to interpretative phenomenological analysis. From our findings we show that living with β-TM involves a continuous struggle between feelings of being different and strategies to minimize these differences to strive for normalcy. We suggest that understanding the experiences of living with β-TM from children’s perspectives can provide unique insights into their experiences, which can fill the gap in the existing, predominantly adult-oriented research on chronic illness

Ethical issues of unrelated hematopoietic stem cell transplantation in adult thalassemia patients

<p>Abstract</p> <p>Background</p> <p>Beta thalassemia major is a severe inherited form of hemolytic anemia that results from ineffective erythropoiesis. Allogenic hematopoietic stem cell transplantation (HSCT) remains the only potentially curative therapy. Unfortunately, the subgroup of adult thalassemia patients with hepatomegaly, portal fibrosis and a history of irregular iron chelation have an elevated risk for transplantation-related mortality that is currently estimated to be about 29 percent.</p> <p>Discussion</p> <p>Thalassemia patients may be faced with a difficult choice: they can either continue conventional transfusion and iron chelation therapy or accept the high mortality risk of HSCT in the hope of obtaining complete recovery.</p> <p>Throughout the decision making process, every effort should be made to sustain and enhance autonomous choice. The concept of conscious consent becomes particularly important. The patient must be made fully aware of the favourable and adverse outcomes of HSCT. Although it is the physician's duty to illustrate the possibility of completely restoring health, considerable emphasis should be put on the adverse effects of the procedure. The physician also needs to decide whether the patient is eligible for HSCT according to the "rule of descending order". The patient must be given full details on self-care and fundamental lifestyle changes and be fully aware that he/she will be partly responsible for the outcome.</p> <p>Summary</p> <p>Only if all the aforesaid conditions are satisfied can it be considered reasonable to propose unrelated HSCT as a potential cure for high risk thalassemia patients.</p

The efficacy of iron chelator regimes in reducing cardiac and hepatic iron in patients with thalassaemia major: a clinical observational study

<p>Abstract</p> <p>Background</p> <p>Available iron chelation regimes in thalassaemia may achieve different changes in cardiac and hepatic iron as assessed by MR. The aim of this study was to assess the efficacy of four available iron chelator regimes in 232 thalassaemia major patients by assessing the rate of change in repeated measurements of cardiac and hepatic MR.</p> <p>Results</p> <p>For the heart, deferiprone and the combination of deferiprone and deferoxamine significantly reduced cardiac iron at all levels of iron loading. As patients were on deferasirox for a shorter time, a second analysis ("Initial interval analysis") assessing the change between the first two recorded MR results for both cardiac and hepatic iron (minimum interval 12 months) was made. Combination therapy achieved the most rapid fall in cardiac iron load at all levels and deferiprone alone was significantly effective with moderate and mild iron load. In the liver, deferasirox effected significant falls in iron load and combination therapy resulted in the most rapid decline.</p> <p>Conclusion</p> <p>With the knowledge of the efficacy of the different available regimes and the specific iron load in the heart and the liver, appropriate tailoring of chelation therapy should allow clearance of iron. Combination therapy is best in reducing both cardiac and hepatic iron, while monotherapy with deferiprone or deferasirox are effective in the heart and liver respectively. The outcomes of this study may be useful to physicians as to the chelation they should prescribe according to the levels of iron load found in the heart and liver by MR.</p

Liver biopsy results in patients with sickle cell disease on chronic transfusions: Poor correlation with ferritin levels

Background: Chronic transfusions are effective in preventing stroke and other complications of sickle cell disease. The aim of this study was to determine whether serum ferritin levels correlated with liver iron content in sickle cell patients on chronic transfusion. Procedure: Forty-four liver biopsy specimens from 38 patients with homozygous sickle cell anemia (HbSS) and one patient with sickle thalassemia receiving chronic transfusions were studied. Five patients underwent a second liver biopsy for follow up. Three ferritin measurements were used to calculate a mean for each patient. The association between serum ferritin levels and liver iron quantitation was measured using the Spearman rank correlation, and sensitivity and specificity were determined for selected threshold values of serum ferritin. Results: Serum ferritin levels ranged from 515 to 6076 ng/ml, liver iron concentration ranged from 1.8 to 67.97 mg/g dry weight. The amount of iron per gram liver dry weight was moderately correlated with serum ferritin values ( r  = 0.46). The correlation of duration of transfusion with serum ferritin ( r  = 0.40) and with liver iron content ( r  = 0.41) also indicated moderate correlation. Liver biopsy results led to changes in the management after 29/44 (66%) of the biopsies. Serum ferritin ≥2500 ng/ml predicted high liver iron content (≥7 mg/g), with a sensitivity of 62.5% and a specificity of 77.8%. Conclusion: We found a poor correlation between serum ferritin levels and liver iron content (LIC). Despite being on chelation therapy, many patients on chronic transfusion had high levels of liver iron. Measurement of LIC is highly recommended in these patients. Pediatr Blood Cancer 2008;50:62–65. © 2007 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/57399/1/21215_ftp.pd