Giovanna Russo-Mancuso

Iron Deficiency Anemia as the Only Sign of Infection with Helicobacter pylori : A Report of 9 Pediatric Cases

Recently, an association betweenHelicobacter pylori (HP) and iron deficiency anemia (IDA) was proposed. We describe 9 pediatric patients with a history of long-standing IDA and HP infection. After HP test results were confirmed to be positive, anti-HP therapy consisting of omeprazole, clarithromycin, and amoxicillin was administered for 2 weeks. The hematologic profile and iron status were assessed before and periodically after the end of the eradication regimen. The eradication of HP was associated with stable normalization of iron stores. HP infection may be involved in cases of IDA of unknown origin, and the eradication of HP is associated with the resolution of anemia.

Presence of hemoglobinopathies in Sicily: a historic perspective.

Sicily, at the center of the Mediterranean, has been the meeting place of Eastern and Western civilizations, and in the Sicilian population the presence of many different alterations in the globin gene clusters can surely be considered testimony of past colonizations. From 1975 to 1994, 100,000 Sicilian subjects were screened by us to monitor the presence of hemoglobin (Hb) structural variants. In this paper we present the data gathered, emphasizing the high incidence (2.5%) of carriers of at least one abnormal Hb, and the great heterogeneity of globin molecular defects on the island. Twenty-six different mutations were identified: the most common occur in the beta-globin gene (beta(S), beta(C), deltabeta(Lepore), beta(G-San José), beta(O-Arab), but also quite frequent is the mutated allele alpha(J-Oxford). The chromosome haplotypes associated with some of them were characterized. Two uncommon Hbs, Copenhagen and D Punjab, and some 18 rare variants complete the wide spectrum of structural alterations of globin genes in Sicily. We think they are de novo mutations prevalently. It is not possible to exclude that the presence of a few of them is related to migratory phenomena, particularly from North Africa and East Asia. Numerous thalassemic alleles complete the picture of globin gene mutations in Silicy.

Lessons learned from the H1N1 pandemic: the need to improve systematic vaccination in Sickle Cell Disease children. A multi center survey in Italy.

During the recent H1N1 pandemic, children with Sickle Cell Disease (SCD) experienced more hospitalizations and more complications than the general pediatric population. We performed a retrospective multicenter survey at 9 Pediatric Haematology-Oncology Units across Italy. H1N1 admission rate was 5.2%, with all admissions occurring before vaccine availability. Length Of Stay (LOS) was 6.06 days (7.85 for Acute Chest Syndrome), longer than in other countries. Vaccination coverage was not homogeneous, ranging from 0 to 99%; several family-related and health-system related barriers in accessing vaccinations were identified that should be ameliorated to improve coverage in this high risk group of children.

Iron status in white sickle cell disease patients

To the editor: Sickle cell disease (SCD) patients have been considered to be at risk of having iron overload due to increased intestinal iron absorption and blood transfusion (1, 2). This hypothesis is based mainly on the finding of high serum ferritin values, which may be elevated during crises (3) and not be a real estimate of iron stores, unless they are measured at a temporal distance from crises. More recent studies, which evaluated patients during their steady state, do not confirm high serum ferritin levels, except for those patients who have been previously transfused (3,4); on the contrary, there is evidence that some patients are iron-deficient ( 5 , 6). However, literature data concern black patients affected by homozygous sickle cell anemia (SCA) (psps), while there are no data regarding white patients with compound heterozygosis pspth. In the present study we evaluated iron status in Sicilian patients with SCD, either psps or pSpth, during their steady state. We studied 31 pediatric patients (range 2-14 years) and 19 adults (range 1545 yr). psps disease was diagnosed in 16 patients, pspoth in 2 1 and f3”p + th in 13 as previously described (7). The patients were not transfused at all or had received not more than one transfusion a year and totally less than 5. Patients who had been previously polytransfused were excluded. None of the patients received any transfusions in the 3 months preceding the study, nor had any clinical manifestation of the disease in the 6-week period prior to blood collection. The following parameters were evaluated for each patient: hematological indexes using a Coulter Counter, percentage of the various Hb fractions by means of electrophoresis on cellulose acetate, HPLC, michrochromatography for HbA2 and Betke’s method for HbF (8), serum iron and transferrin saturation, serum ferritin, FEP and urinary iron secretion. Iron indexes are reported in Table 1 where the patients have been divided into three groups according to their genotype. The differences among the three groups are not significant, except for transferrin saturation which is higher in pspoth patients, for serum ferritin which is more elevated in psps patients, intermediate in pspoth and lower in psp+ th , and for FEP which is higher in psps patients. Urinary iron excretion was (mean 2 l S.D.) 1.39 1.05 mg/24 h compared to 0.22 & 0.19 mg/ 24 h in 24 normal controls ageand sex-matched (p < 0.005). Our patients exhibit iron indexes which fall within or nearly within the normal distribution, except for FEP which is elevated, probably due to reticulocytosis (9). Therefore our results suggest that Sicilian SCD patients who have not been regularly transfused do not show susceptibility to iron overload. As a matter of fact, another 20 patients who have been regularly transfused in the past for at least 2 yr and therefore have not been evaluated in this study did not show serum ferritin values that were excessively elevated (mean 324.4, range 39-700 pg/l). There are

LETTER TO THE EDITOR: The changing profile of sickle cell disease in Italy

Sickle cell disease (SCD) is the most frequent haemoglobinopathy in Italy. Particularly, HbS is endemic in Sicily and Southern Italy. As a result of the domestic migrations, that took place after World War II, the disease has spread all over Italy, as already reported [1]. During the last two decades, mass immigration from foreign countries contributed to the further diffusion of the disease in Italy. We report the results of the adjournment of the national survey to evaluate the changes in the distribution of the cases. All centres who registered patients to the previous survey were asked to update data. Furthermore, a questionnaire for the registration of new cases was sent to all Italian Centres of either Paediatrics and Haematology. Table 1 reports the significant data of the present survey and compares them with the ones collected in 1994. Today, a total of 829 cases is reported, 19% more than in 1994. There is a significant increase of the patients living in Northern Italy (20 vs. 13%) and a decrease of those living in Sicily (53 vs. 60%). There is also a higher percentage of S–S patients (28 vs. 21%). Six hundred and eighty-two are Italian cases, while 147 (18%) have non-Italian parents. For foreign cases, the continent of origin is Africa (83%), Europe (9%), Central and Southern America (1%), Northern America (1%), Asia (1%). Comparison of Italian and foreign patients shows that non-Italian cases are mainly affected by the homozygous form of the disease (72% are S–S, vs. 18% among Italians), are younger (75% younger than 18, vs. 23% among Italians) and live mainly in Northern Italy (61 vs. 11%). The present survey reveals the increase of foreign patients, which accounted for 6.3% of registered cases in 1994 and 18% today. These data surely underestimate the presence of such patients; presumably, there are other individuals with SCD living illegally in Italy and/or affected by milder clinical expression, who never seek medical assistance. The increase of non-Italian patients easily explains some of differences found; this is the case of the increase of patients affected by the homozygous form of the disease. Foreign patients come to Italy mainly from Africa, where HbS, but not b thalassaemia, is endemic. Also the increasing prevalence of patients living in Northern Italy seems to be attributable to