Development of a Thalassemia International Prognostic Scoring System (TIPSS).

A prognostic scoring system that can differentiate ß-thalassemia patients based on mortality risk is lacking. We analysed data from 3145 ß-thalassemia patients followed through a retrospective cohort design for the outcome of death. An a priori list of prognostic variables was collected. ß Coefficients from a multivariate cox regression model were used from a development dataset (n = 2516) to construct a formula for a Thalassemia International Prognostic Scoring System (TIPSS) which was subsequently applied to a validation dataset (n = 629). The median duration of observation was 10.0 years. The TIPSS score formula was constructed as exp (1.4 × heart disease + 0.9 × liver disease + 0.9 × diabetes + 0.9 × sepsis + 0.6 × alanine aminotransferase ≥42 IU/L + 0.6 × hemoglobin ≤9 g/dL + 0.4 × serum ferritin ≥1850 ng/mL). TIPSS score thresholds of greatest differentiation were assigned as <2.0 (low-risk), 2.0 to <5.0 (intermediate-risk), and ≥5.0 (high-risk). The TIPSS score was a good predictor for the outcome of death in the validation dataset (AUC: 0.722, 95%CI: 0.641-0.804) and survival was significantly different between patients in the three risk categories (P < 0.001). Compared to low-risk patients, the hazard ratio for death was 2.778 (95%CI: 1.335-5.780) in patients with intermediate-risk and 6.431 (95%CI: 3.151-13.128) in patients with high-risk. This study provides a novel tool to support mortality risk categorization for patients with ß-thalassemia that could help management and research decisions.

Primary HBB gene mutation severity and long-term outcomes in a global cohort of ß-thalassaemia.

In ß-thalassaemia, the severity of inherited ß-globin gene mutations determines the severity of the clinical phenotype at presentation and subsequent transfusion requirements. However, data on associated long-term outcomes remain limited. We analysed data from 2109 ß-thalassaemia patients with available genotypes in a global database. Genotype severity was grouped as ß0 /ß0 , ß0 /ß+ , ß+ /ß+ , ß0 /ß++ , ß+ /ß++ , and ß++ /ß++ . Patients were followed from birth until death or loss to follow-up. The median follow-up time was 34·1 years. Mortality and multiple morbidity outcomes were analyzed through five different stratification models of genotype severity groups. Interestingly, ß0 and ß+ mutations showed similar risk profiles. Upon adjustment for demographics and receipt of conventional therapy, patients with ß0 /ß0 , ß0 /ß+ , or ß+ /ß+ had a 2·104-increased risk of death [95% confidence interval (CI): 1·176-3·763, P = 0·011] and 2·956-increased odds of multiple morbidity (95% CI: 2·310-3·784, P < 0·001) compared to patients in lower genotype severity groups. Cumulative survival estimates by age 65 years were 36·8% for this subgroup compared with 90·2% for patients in lower genotype severity groups (P < 0·001). Our study identified mortality and morbidity risk estimates across various genotype severity groups in patients with ß-thalassaemia and suggests inclusion of both ß+ and ß0 mutations in strata of greatest severity.

Breastfeeding in Prevention of Postpartum Acute Pancreatitis.

BACKGROUND: Acute pancreatitis (AP) caused by gallstones has an increased rate of incidence in young women in the 2 years postpartum. Middle-aged women with longer periods of breastfeeding have less hospitalization for gallbladder disease. AIM: To investigate whether breastfeeding or other variables may be associated with AP. METHODS: We conducted a population-based case-control study among all Sicilian women of childbearing age, and we identified all women who delivered (2013-2016) and had AP within 2 years postpartum. We reviewed their medical records, and for each case we matched four women of the same age (± 5 years), without AP. Univariate and multivariate logistic regression was used to estimate the odds ratios (OR) with their confidence intervals (CI) to assess associations between AP and clinical determinants. RESULTS: In the 74 women with AP and 298 controls at univariate analysis, > 6 months oral contraception history (p < 0.01; OR 3.30; 95% CI 1.33-8.16), previous biliary disease (p < 0.001; OR 5.90; 95% CI 1.98-17.57) and smoking (p = 0.035; OR 2.04; 95% CI 1.04-4.0) were predictors of AP; amenorrhea ≥ 3 months (p < 0.001; OR 0.34; 95% CI 0.19-0.59) and breastfeeding ≥ 3 months (p < 0.001; OR 0.07; 95% CI 0.03-0.14) were protective. At multivariate analysis, previous biliary disease (p = 0.011; OR 5.49; 95% CI 1.48-20.38) and breastfeeding ≥ 3 months (p < 0.001; OR 0.06; CI 95% 0.03-0.14) were associated with AP. CONCLUSIONS: Women who breastfeed for at least 3 months and do not have a history of biliary disorders have reduced risk of developing AP in the 2 years after delivery.

[Application of an algorithm for the validation of congenital anomaly cases using hospital discharge records]. / Applicazione di un algoritmo per la validazione dei casi di malformazione congenita provenienti dal flusso delle schede di dimissione ospedaliera.

OBJECTIVES: to evaluate and validate the adoption of an algorithm for the identification of cases of congenital anomalies (CAs) to improve the performance of the Congenital Malformations Registry of Sicily Region (Southern Italy). DESIGN: an algorithm was used to identify congenital anomalies on a sample of hospital discharge records (SDO) with ICD-9-CM code between 740-759 on any of the diagnoses within the first year of life, together with a sample of healthy births equal to 5% of total births for the same period. The identified cases were evaluated through the clinical record analysis. SETTING AND PARTICIPANTS: the analysed sample was composed of 4,271 cases identified between June 2013 and December 2014 along with 3,993 SDO without any code of MC (5% of the total volume of births in the same period). MAIN OUTCOME MEASURES: positive predictive value (VPP) and negative predictive value (VPN) were computed by means of the comparison between the algorithm outcomes and the clinical record verification. RESULTS: 4,271 potentially malformed records involving 3,381 subjects born in the Sicilian territory have been identified. Among the hospital discharge records that it was possible to verify, the application of the algorithm led to the exclusion of 924 cases: of these, 62 proved to be false negatives (VPN: 93.3). The valid cases were 1,179, while the cases to be evaluated 617: the comparison between algorithm and clinical record analysis led to a VPP of 91.7 and 72.1, respectively, for valid and to be evaluated. CONCLUSIONS: the tested algorithm proved to be a useful tool for identifying SDO potentially related to congenital anomalies. In the overall sample, the algorithm provided an outcome consistent with the clinical record assessment in 87.4% (2,379) of cases.

A complication risk score to evaluate clinical severity of thalassaemia syndromes.

The thalassaemia syndromes (TS) show different phenotype severity. Developing a reliable, practical and global tool to determine disease severity and tailor treatment would be of great value. Overall, 7910 patients were analysed with the aim of constructing a complication risk score (CoRS) to evaluate the probability of developing one or more complications. Nine independent variables were included in the investigation as predictors. Logistic regression models were used for Group A [transfusion-dependent thalassaemia (TDT)], Group B [transfused non-TDT (NTDT)] and Group C (non-transfused NTDT). Statistically significant predictors included age (years), haemoglobin levels, hepatic transaminases [alanine aminotransferase (ALT) and aspartate aminotransferase] and left-ventricular ejection fraction (LVEF) for Group A; age (years), age at first chelation (months), ALT and LVEF for Group B; and age (years), mean serum ferritin (SF) levels and LVEF for Group C. The area under the receiver operating characteristic curve was 84·5%, 82·1% and 80·0% for Groups A, Group B and Group C respectively, suggesting the models had good discrimination. Finally, the CoRS for each group was categorised into four risk classes (low, intermediate, high, and very high) using the centiles of its distribution. In conclusion, we have developed a CoRS for TS that can assist physicians in prospectively tailoring patients' treatment.

Acute Pancreatitis During and After Pregnancy: Incidence, Risk Factors, and Prognosis.

BACKGROUND: Acute pancreatitis may complicate pregnancy and both are associated with gallstones, but its incidence is not well known. AIMS: To validate hospital discharge records in diagnosing acute pancreatitis and gallstones and to evaluate acute pancreatitis incidence in non pregnant, pregnant and after delivery using hospital discharge records METHODS: We identified all hospital discharge records of hospitalized Sicilian women of childbearing age (2011-2016). We determined agreement between 300 hospital discharge records and hospital records in diagnosing acute pancreatitis and gallstones. Acute pancreatitis incidence, prognosis, and their relationship with age and gallstones were calculated in the three groups using hospital discharge records. RESULTS: There was 92% and 88% agreement in diagnosing acute pancreatitis and gallstones between hospital discharge and hospital records. In non pregnant, 1,564 of 7,236,863 women-years (21.61/100,000 person-years) developed acute pancreatitis. During pregnancy, 34 of 226,492 women-years developed acute pancreatitis (20.02/100,000 person-years). Postpartum acute pancreatitis incidence was higher than non pregnant, only in the first 2 years with the peak in the first semester (95.4/100,000 person-years). The increased incidence of postpartum acute pancreatitis was associated with gallstones in youngest women (gallstones acute pancreatitis in women below 20 years old versus non pregnant: rate ratios 16.61; 95% CI 8.40-32.87). CONCLUSIONS: Agreement in acute pancreatitis and gallstones diagnosis between hospital discharge and hospital records was accurate. Acute pancreatitis incidence was increased only in the first 2 years after delivery in young women with gallstones.

Trends and projections of pleural mesothelioma incidence and mortality in the national priority contaminated sites of Sicily (Southern Italy).

OBJECTIVES: to evaluate short-medium term incidence and mortality projections of pleural malignant mesothelioma (PMM) in Sicily Region (Southern Italy) and in its four National Priority Contaminated Sites (NPCSs). DESIGN: population-based prediction study. SETTING AND PARTICIPANTS: PMM cases from 1998 to 2016 registered by the Regional Operations Centre of the Sicilian Region. MAIN OUTCOME MEASURES: incidence and mortality trends of PMM were estimated for the period 1998-2016 from the relationships among mortality, incidence, and survival. Projections of incidence and mortality rates were obtained up to 2026. RESULTS: age-standardized incidence rates of PMM in Sicily were estimated to increase in men from 1.4 (x100,000) in 1998 to 2.29 in 2021 and to slightly decrease down to 2.2 in 2026. Women age-standardized rates in the same period are estimated to decrease from 0.52 to 0.27. In Biancavilla, age-standardized incidence rates were estimated to remain stable between 8.1 and 8.0 in men, while crude rates increased from 8.3 in 1998 to 10.7 in 2026. For women, the estimated age-standardized incidence rates are increasing from 3.08 to 6.75. In the three pooled NPCSs of Augusta-Priolo, Gela, and Milazzo, the estimates of age-standardized incidence rates show an initial trend to growth followed by a decreasing trend, both in men and women, down to predicted values in 2016 of 3.0 in men and 0.77 in women. Estimated age-standardized and crude mortality rates show, for both sexes and all areas, similar patterns as those estimated for incidence. CONCLUSIONS: in Sicily and in the three NPCSs of Gela, Milazzo, and Priolo, incidence and mortality projections are downward in both sexes. In Biancavilla, mesothelioma occurrence is estimated to increase up to 2026, slightly in males and more significantly in females.

[The epidemiological surveillance in the programme of public health intervention in the national priority contaminated sites of Sicily Region (Southern Italy): update of mortality, hospitalization, and cancer incidence]. / La sorveglianza epidemiologica nel programma regionale di interventi sanitari nei siti di interesse nazionale della Sicilia: aggiornamento della mortalità, dell'ospedalizzazione e dell'incidenza oncologica.

OBJECTIVES: to update the health profile of populations residing in the national priority contaminated sites (NPCSs) in Sicily Region (Southern Italy) through a description of mortality and hospitalization for causes and through cancer incidence. This new profile is part of the implementation of the epidemiological surveillance system within the new Programme of care intervention for health protection in these populations and in the new Regional Prevention Plan. DESIGN: geographic population survey providing, for each NPCS considered in this study, a comparison between the local population and the populations of the neighbouring areas. SETTING AND PARTICIPANTS: the study population included the residents in the municipalities residing in the NPCSs of Augusta-Priolo, Gela, Milazzo, and Biancavilla. MAIN OUTCOME MEASURES: the standardized mortality ratio (SMR), morbidity (SHR), and tumour incidence (SIR), with the respective 95% confidence intervals, were estimated using the Mortality Registry as source for the mortality index, the database of the hospital discharged as source for the morbidity index, and the data from the Regional Network of Tumour Registers as source for the incidence index. RESULTS: in the local comparison, excess of hospitalization in both sexes was reported in Augusta-Priolo for liver cirrhosis, mental disorders, and digestive tract disease, and an excess of incidence and mortality for leukaemia in women and prostate cancer in men. In the NPCS of Gela, there was an excess of hospitalization in both sexes for blood and hematopoietic diseases, circulatory and nervous system diseases, coupled with the same excess of mortality. Excess of incidence and mortality of stomach tumours in men and incidence of lung cancer in women were observed. The area of ​​Milazzo was characterized by an excess of incidence and mortality for melanoma in men. In the municipality of Biancavilla, there is evidence of excess of hospitalization for respiratory diseases and endocrine glands diseases in both sexes, while a mortality excess for circulatory system diseases was highlighted. The excess of incidence of mesothelioma in both men and women was confirmed. CONCLUSION: data from the new surveillance system help to define the health profile in the NPCSs of Sicily. Even using the local level of comparison, that was added to the traditional approach in geographic studies for the NPCSs available to date, the particular impact of some chronic diseases in these populations has been confirmed also in recent years.

[Reproductive health in high environmental risk areas in Sicily Region (Southern Italy) in the period 2007-2013]. / La salute riproduttiva nelle aree a elevato rischio di crisi ambientale della Sicilia nel periodo 2007-2013.

BACKGROUND: Augusta-Priolo (SR), Gela (CL), and Milazzo (ME) cities, located in Sicily Region (Southern Italy), are included among the areas at high environmental risk in Italy and the national legislation classifies them among the polluted sites of national interest for environmental remediation. In the past, these areas had high contamination from industrial complexes. OBJECTIVES: assessment of reproductive health through the analysis of data from the birth reports of all hospital of Sicily Region in 2007-2013. DESIGN AND SETTING: geographical population study; analysis of reproductive health through analysis of pregnancy outcomes occurred in Sicily from women of childbearing age (10-55 years; excluding women who remain anonymous) with record linkage with population data (neighbouring municipalities and whole region, considered as not exposed areas). MAIN OUTCOME MEASURES: sex ratio, stillbirth rates, proportion of multiple births, low birth weight, very low birth weight, gestational age <37 weeks, proportion of small for gestational age. RESULTS: in the period 2007-2013, an average annual number of 43,000 births (51.4% males) occurred. Sex ratio was not significantly modified in comparison with local and regional values. Several indicators in each area were similar when compared with the local reference population or with regional population. Stillbirths were significantly higher only in Augusta-Priolo area vs. the local population (OR: 2.26; CI95% 1.07-4.80), and slightly higher vs. regional population. Multiple births were significantly higher in Augusta-Priolo area (OR: 1.19; CI95% 1.01-1.41) and in the town of Siracusa (OR: 1.15; CI95% 1.01-1.316) when compared with regional population, and slightly higher vs. local population. Prematurity was significantly higher only in the area of Milazzo compared to the regional population (OR: 1.20; CI95% 1.02-1.41), and slightly higher compared to the local population. No excess of low birth weight (<2,500 grams) and small for gestational age (almost 37 weeks) babies was observed in these areas. CONCLUSIONS: according to this study, pregnancy outcomes were not clearly affected in these areas although some modifications were noted in Augusta and in Milazzo. The surveillance of reproductive health is of paramount importance to understand the effects of air pollution on morbidity and mortality in these areas.

Comorbidities and survival in obstructive sleep apnoea beyond the age of 50.

BACKGROUND: Although mortality risk associated with obstructive sleep apnoea (OSA) tends to disappear from the age of 50, it has been suggested that OSA treatment by continuous positive airway pressure (CPAP) improves survival even in older subjects. Life expectancy of subjects with several diseases is worse if OSA coexists. The objectives of this study were to evaluate the relevance of comorbidities in the relationship between OSA and mortality, and in the effect of CPAP on survival, in subjects ≥ 50 years old. METHODS: Data from 810 patients studied by polysomnography for suspected OSA between 1991 and 2000 were retrospectively evaluated. In 2009, state of survival and use of CPAP were enquired. Three hundred and thirteen subjects were < 50 and 497 were ≥ 50 years at diagnosis. RESULTS: Age and comorbidities, but not apnoea/hypopnoea index (AHI) or lowest nocturnal arterial oxygen saturation (Nadir SaO(2)), predicted mortality in the whole sample. Nadir SaO(2) was related to mortality among the younger subjects without comorbidities (P = 0·01), but not among the older subjects. In the older patients with an AHI > 30 CPAP treatment was associated with a better survival only if comorbidities coexisted. CONCLUSIONS: Unlike in younger subjects, in subjects ≥ 50 years old, comorbidities do not mask an effect of OSA on mortality. Among OSA subjects ≥ 50 years old, comorbidities could separate those who may expect an improvement in survival with CPAP treatment from those who may not. Possibly, after the age of 50, OSA per se does not affect survival, but worsens prognosis of subjects with coexisting diseases.

Mortality and morbidity study of petrochemical employees in a polluted site.

BACKGROUND: The area of Gela was included among the 57 Italian polluted sites of national interest for environmental remediation because of its widespread contamination from a petrochemical complex. The present study investigates mortality and morbidity of the cohort of Gela petrochemical workers with the aim of disentangling occupational from residential risk. METHODS: Mortality was assessed for 5,627 men hired from 1960, year of the plant start-up, to 1993; it was followed up for vital status in the period 1960-2002. Morbidity was analysed for 5,431 workers neither dead nor lost to follow-up from 1960 to 2001 and was based on Hospital Discharge Records in the period 2001-2006. The work experience was classified in terms of job categories such as blue collars, white collars, and both--workers who shifted from blue to white collar (95%) or vice versa. An ad hoc mobility model was applied to define qualitative categories of residence in Gela, as residents and commuters. Standardized Mortality Ratios (SMRs) and Mortality Rate Ratios (MRRs) were computed, the latter by using a Poisson regression model. Morbidity was analyzed in terms of Hospital Discharge Odds Ratios (HDORs) through a logistic regression model. While performing the internal comparisons, white collars was the reference category for the job analysis, and commuters was the reference category for the residential analysis. RESULTS: In the light of epidemiological evidence about health risk from petrochemical industries in both occupational and environmental settings, and/or on the basis of information about occupational and residential contamination and health risk in the area of Gela, noteworthy results are shown for lung cancer [MRR: 2.11 (CI 90%; 0.96-4.63) in blue collars; 1.71 (1.09-2.69) in residents], respiratory diseases [HDOR: 2.0 (1.0-3.0) in blue collars; 1.4 (0.96-2.06) in residents] and genitourinary diseases [HDOR: 1.34 (1.06-1.68) in blue collars; 1.23 (1.04-1.45) in residents]. CONCLUSIONS: The results support a role of the exposures in the occupational and residential settings, the latter due to the local ascertained contamination, in affecting the workers' health. These results underline the urgent need of water, soil, air and food-chain monitoring programs, to discover active sources of exposure and consequently define public health interventions.

[The diffusion of screening programmes in Italy, year 2010]. / La diffusione dei programmi di screening in Italia, anno 2010.

The national meeting of the National Centre for Screening Monitoring (ONS) was given the title "The screening during the crisis" as we realize that the severe economical crisis of our country influences all the health policies and, as a consequence, screening programs. Within this global scenario, the results of 2010 concerning screening programs can be considered as still positive even if the gap between the North and the Central Regions as compared to the South remains. In short, in 2010 almost 9.5 millions people were invited to undergo a screening examination (3,450,000; 2,496,000 and 3,464,000 for cervical, mammographic and colorectal cancer respectively). As compared to the previous year, a large increase was observed for colorectal screening.Whereas a slight decrease was observed both for cervical and for mammographic screening. The latter trend was partially due to the overload consequent to the extension of the programme to women younger than fifty in a couple of regions (Emilia-Romagna and Piemonte). More than 4.3 millions of subjects actually complied to the invitation (1,375,000; 1,382,000 and 1,582,000 for cervical, mammographic and colorectal cancer, respectively). As a consequence of these activities were identified 6,015 breast cancers (31% of annual occurring breast cancers in Italy in the age group 50-69 years according to the most update estimates of breast cancer occurrence), 4,597 CIN2 or more severe cervical lesions, 2,916 colorectal cancers (15% of annual occurring CRC cancer in Italy in the age group 50-69 years) and 15,049 advanced adenomas.

The diffusion of screening programmes in Italy, year 2009.

In 2009, screening programmes in Italy continued to have positive results, as well as retaining some of the issues encountered in previous years. Overall, in 2009 over 9,000,000 people were invited to undergo a screening examination (3,547,000, 2,522,000 and 2,994,000, for cervical, breast, and colorectal cancer, respectively). More than 4 million people actually took up the invitation (1,393,000, 1,363,000, and 1,423,000 for cervical, breast, and colorectal cancer, respectively). The screening activities led to the finding of 5,973 breast cancers (36% of annual occurring breast cancers in Italy in the 50-69 year age group), 4 454 CIN2 or more severe cervical lesions, 2,556 colorectal cancers (16% of annual occurring CRC cancer in Italy in the 50-69 year age group), and 13,554 advanced adenomas.

Childbirth Care among SARS-CoV-2 Positive Women in Italy.

The new coronavirus emergency spread to Italy when little was known about the infection's impact on mothers and newborns. This study aims to describe the extent to which clinical practice has protected childbirth physiology and preserved the mother-child bond during the first wave of the pandemic in Italy. A national population-based prospective cohort study was performed enrolling women with confirmed SARS-CoV-2 infection admitted for childbirth to any Italian hospital from 25 February to 31 July 2020. All cases were prospectively notified, and information on peripartum care (mother-newborn separation, skin-to-skin contact, breastfeeding, and rooming-in) and maternal and perinatal outcomes were collected in a structured form and entered in a web-based secure system. The paper describes a cohort of 525 SARS-CoV-2 positive women who gave birth. At hospital admission, 44.8% of the cohort was asymptomatic. At delivery, 51.9% of the mothers had a birth support person in the delivery room; the average caesarean section rate of 33.7% remained stable compared to the national figure. On average, 39.0% of mothers were separated from their newborns at birth, 26.6% practised skin-to-skin, 72.1% roomed in with their babies, and 79.6% of the infants received their mother's milk. The infants separated and not separated from their SARS-CoV-2 positive mothers both had good outcomes. At the beginning of the pandemic, childbirth raised awareness and concern due to limited available evidence and led to "better safe than sorry" care choices. An improvement of the peripartum care indicators was observed over time.

[Socioeconomic disparities in mortality among older people in Sicily]. / Un indicatore comunale di posizione socioeconomica e mortalità nell'anziano in Sicilia.

OBJECTIVE: to construct a composite municipal index of socioeconomic position (SEP) and to describe socioeconomic disparities in mortality within Sicilian elderly inhabitants (age 65+). DESIGN: 2001 Sicily Census data were used to develop a 5-level SEP index for the 390 municipalities of the Region. Education, occupation, housing tenure, family composition and immigration were considered in order to perform a factor analysis. We used Sicilian Mortality Registry data to compute standardized mortality rates by gender. The SEP index was used for mortality from all causes and for most common causes of death in elderly population. Rates, with 95% confidence intervals, were computed to compare mortality in each level of SEP to the highest level. RESULTS: there were socioeconomic disparities both in overall and in cause-specific mortality. Progressively higher mortality rates with lower SEP were observed for overall mortality (ratio between extreme categories: 1.16 in men, 1.14 in women), as well for mortality from cardiovascular diseases in both genders (ratio between extreme categories: 1.12 in men, 1.09 in women), from respiratory disease in men (ratio between extreme categories: 1.20), and from endocrine glands diseases in women (ratio between extreme categories: 1.35). For deaths from cancer and from diseases of the digestive system mortalities, in both genders, we found higher risks within the lowest SEP level as compared to the highest. Cardiovascular diseases contributed the most to the socioeconomic differences in overall mortality. CONCLUSION: Within the Sicilian elderly population, socioeconomic position is associated with mortality. The highest mortality rates were observed in the most disadvantaged municipalities. Moreover, mortality rates were oddly distributed by gender.

[Survey on the Prevalence of Rare Kidney Diseases in Sicily].

Renal Diseases represent almost 6% of all Rare Diseases but are often misdiagnosed. In a survey made in Sicily in 2016, based on cases reported from all public hospitals according to a list of rare kidney diseases, we were able to collect 337 cases (199 males and 138 females). The highest prevalence was detected in children: 13.9 cases in 100.000 children; the mean age was 10, and the median 5 years, at the time of the diagnosis. Comparing our data with those available in the Sicilian Register of Rare Diseases we found that only 141 cases (54%) were present in the register. Promoting regional registries of rare kidney diseases in Italy may be useful for epidemiologic studies.

ß-Thalassemia heterozygote state detrimentally affects health expectation.

BACKGROUND: Thalassemia minor (Tm) individuals, are generally considered healthy. However, the prognosis of Tm individuals has not been extensively studied. The aim of this study was to evaluate the prognosis of Tm versus controls without ß-thalassemia carrier state. METHODS: A total of 26,006 individuals seeking thalassemia screening at the AOOR Villa Sofia-V. Cervello, Palermo (Italy) were retrospectively studied. Logistic penalised regression model was used to estimate risk of potential complications and survival techniques were used to study mortality. RESULTS: We identified a total of 4943 Tm and 21,063 controls. Tm was associated with significantly higher risks of hospitalisation for cirrhosis (OR 1·94, 95% CI 1·30 to 2·90, p = 0·001), kidney disorders (OR 2·11, 95% CI 1·27 to 3·51, p = 0·004), cholelithiatis (OR 1·39, 95% CI 1·08 to 1·79, p = 0·010), and mood disorders (OR 2·08, 95% CI 1·15 to 3·75, p = 0·015). No statistically difference in life expectancy between thalassemia minor and control group was found (HR 1·090, 95% CI 0·777 to 1·555, p < 0·590; log-rank test p = .426). CONCLUSION: This study shows that Tm affects the prognosis of Tm carriers regarding health expectation. Probably, iron overload and anaemia for several years may be at the basis of these effects.