Welcome to IthaMaps

IthaMaps is a global epidemiology database of heamoglobinopathies, illustrating published data on a dynamic global to regional map. Country-specific information on haemoglobinopathy-related policies, prevalence, incidence and overall disease burden is given, including relative allele frequencies of specific globin mutations in each country and/or region, dynamically linked to corresponding IthaGenes entries.

IthaMaps content was supported by partnership with the HVP Global Globin 2020 Challenge

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  General information for Italy


Italy
Continent: Europe
Capital: Rome
Population: 60340328
Area (in sq km): 301230.0

Haemoglobinopathy-specific healthcare policy information for Italy

Healthcare policyComment/InfoReference
Prevention programme: Yes (Regional)Prevention programme by population information and school screening.
SCD newborn screening: NoSeveral pilot regional targeted screening programs.[PMID: 30334577]
Prenatal screening: Yes (National)Voluntary. By Celocentesis, CVS and Amniocentesis[PMID: 11773575]
Antenatal screening: Yes (National)
Haemoglobinopathies patient registry: Yes (National)There are several regional registries with more clinical data and a national registry with a more simple data set. E.g.: Italian Multiregional Thalassemia Registry (HTA-Thal), National, and Sicilian Registry Thalassemia and Hemoglobinopathies (ReSTE), Regional.[PMID: 31213746]
Rare disease patient registry: Yes (National)From: RD-Action 2016 Report on Rare Disease Activities in Italy
Dedicated treatment centres: Yes (National)134 public clinical centers, at least 1 per region. Small and exclusively pediatric centers prevail in the North, adult and large centers are mainly concentrated in the South and Islands.[PMID: 26863102]
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)Availability of deferoxamine, deferiprone, deferasirox.[PMID: 26863102]
MRI facilities: Yes (National)Availability of iron monitoring procedures such as SQUID and T2* MRI, but not all centres are equipped to offer on-site services.[PMID: 26863102]
Patient associations: Yes (National)
Genetic counselling: Yes (National)

  Prevalence and incidence of major haemoglobinopathies in Italy

HaemoglobinopathyComment/InfoReference
Prevalence of β-thalassaemia carriers: 6 % of the population
Prevalence of sickle cell disease carriers: 2 % of the population
Prevalence of α-thalassaemia carriers: 6 % of the population
Prevalence of Hb E carriers: 0.2 % of the population
Prevalence of Hb C carriers: 1 % of the population<1%
Expected incidence of β-thalassaemia: 220 expected affected births/year[PMID: 24672827]
Incidence of sickle cell disease: 91 affected births/yearMedian value estimated using statistical model and demographic data.[PMID: 23103089]
Known β-thalassaemia patients: 7000 patients[PMID: 30334577]
Known sickle cell disease patients: 1275 patients2019 data from the National Registry of Thalassemia and Haemoglobinopathies[PMID: 34487057]

Mutation frequencies in Italy

 Overview (most frequent mutations with their observed average values and range)

 α-locus

-α3.7 (type I): 76.8 %ααα(anti-3.7): 7.1 %
IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor: 5.1 %-α4.2: 4 %

 β-locus

CD 39 (CAG>TAG): 37.73 % (16.1 % – 95.7 %)CD 6 GAG>GTG [Glu>Val] (HbS): 23.2 % (9.39 % – 37 %)
IVS I-110 G>A: 22.14 % (0.5 % – 36.5 %)IVS I-6 (T>C): 10.53 % (0.1 % – 18.9 %)

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
23176β-locusCountry-wideItalianCarriers91419921511973Frequencies are shown for beta-globin gene mutations. Reported data is representative of allele frequencies in different Italian regions. Study samples were acquired from the University Hospital of Cagliari.
23177β-locusPo deltaItalianCarriers7819921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23178β-locusLazioItalianCarriers5219921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23179β-locusCampaniaItalianCarriers16219921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23180β-locusPugliaItalianCarriers31819921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23181β-locusCalabriaItalianCarriers9419921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23182β-locusBasilicataItalianCarriers3119921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23183β-locusSicilyItalianCarriers15319921511973Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23184β-locusSardiniaItalianCarriers300019921734721Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23185β-locusTrapaniItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23186β-locusAgrigentoItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23187β-locusCaltanissettaItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23188β-locusRagusaItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23189β-locusSiracusaItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23190β-locusCataniaItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23191β-locusMessinaItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23192β-locusSicilyItalianCarriers102051990201021353607Frequencies are shown for beta-globin gene mutations.
23193β-locusPalermoItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23194β-locusEnnaItalianCarriers88751990201021353607Frequencies are shown for beta-globin gene mutations.
23195β-locusPerugiaItalianCarriers and Patients2331988201528361595Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. Study samples originated from the region of Umbria, Central Italy.
23196α-locusPerugiaItalianCarriers991988201528361595Frequencies are shown for beta-globin gene mutations. Study samples originated from the region of Umbria, Central Italy.

  Organisations in Italy

A list of all organisations in Italy stored in the ITHANET database is shown below. For more information, click on the corresponding organisation name or visit the detailed ITHANET Organisations page

NameDepartmentOrganisation type
DEferiprone Evaluation in Paediatrics (DEEP)Research Project/Multi-Center Study
European Genetics Foundation (EGF)Research Center, Higher Education
IRCCS Istituto Giannina GasliniLaboratory of Human GeneticsResearch Center, Medical Center
Ospedale Oncologico di Riferimento Regionale Medical Center
Ospedali Riuniti Villa Sofia-CervelloCampus of Haematology “Franco e Piera Cutino”Research Center, Medical Center, Diagnostic Center
Policlinico San Matteo Pavia Fondazione IRCCS (Il San Matteo)Medical Genetics LaboratoryResearch Center, Medical Center, Diagnostic Center
Policlinico San Matteo Pavia Fondazione IRCCS (Il San Matteo)Department of hematologyResearch Center, Medical Center, Diagnostic Center
San Luigi Gonzaga University HospitalClinical and microbiological analysis laboratoryResearch Center, Diagnostic Center
Scientific Institute H.S.RaffaeleResearch Center, Diagnostic Center
Thalassaemia Modular Stratification System for personalized therapy of beta-thalassaemia (THALAMOSS)Research Project/Multi-Center Study
Thalassemia Center – San Luigi University HospitalResearch Center, Diagnostic Center
The University of Cagliari (UNICA)Research Center, Higher Education
Università degli Studi di Ferrara Department of Biochemistry and Molecular BiologyResearch Center
Università Vita-Salute San Raffaele (IniSR)Higher Education
University Federico II of Naples (CEINGE)Dept. of Molecular Medicine and Medical BiotechnologiesResearch Center
University of Milan (UNIMI)Research Center, Higher Education
University of Turin (UNITO)Thalassemia Centre of the Department of Biological and Clinical Sciences, Higher Education, Diagnostic Center

 Microattributions

A/AContributor(s)DateComments
1Moi, Paolo2016-03-24Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge.
2Maggio, Aurelio2016-09-16Epidemiological data reviewed and updated.

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Important Note: The relative allele frequencies presented in IthaMaps are not calculated by ITHANET, but they are extracted from the corresponding publications. ITHANET is not responsible for any mistakes in the data. Please use this information with caution! We encourage scientists that have more detailed or updated epidemiological information to contact us.

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