IthaMaps

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 policy		Comment/Info	Reference
Prevention programme:	Yes (Regional)	Prevention programme by population information and school screening.
SCD newborn screening:	No	Several 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

Haemoglobinopathy		Comment/Info	Reference
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/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]
Known β-thalassaemia patients:	7000 patients		[PMID: 30334577]
Known sickle cell disease patients:	1275 patients	2019 data from the National Registry of Thalassemia and Haemoglobinopathies	[PMID: 34487057]

Global Burden of Disease data for Italy

Migration data for Italy

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 [Gln>STOP]: 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 ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23176	β-locus	Country-wide	Italian	Carriers	914		1992	1511973	Frequencies 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.
23177	β-locus	Po delta	Italian	Carriers	78		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23178	β-locus	Lazio	Italian	Carriers	52		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23179	β-locus	Campania	Italian	Carriers	162		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23180	β-locus	Puglia	Italian	Carriers	318		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23181	β-locus	Calabria	Italian	Carriers	94		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23182	β-locus	Basilicata	Italian	Carriers	31		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23183	β-locus	Sicily	Italian	Carriers	153		1992	1511973	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23184	β-locus	Sardinia	Italian	Carriers	3000		1992	1734721	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University Hospital of Cagliari.
23185	β-locus	Trapani	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23186	β-locus	Agrigento	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23187	β-locus	Caltanissetta	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23188	β-locus	Ragusa	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23189	β-locus	Siracusa	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23190	β-locus	Catania	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23191	β-locus	Messina	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23192	β-locus	Sicily	Italian	Carriers	10205	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23193	β-locus	Palermo	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23194	β-locus	Enna	Italian	Carriers	8875	1990	2010	21353607	Frequencies are shown for beta-globin gene mutations.
23195	β-locus	Perugia	Italian	Carriers and Patients	233	1988	2015	28361595	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. Study samples originated from the region of Umbria, Central Italy.
23196	α-locus	Perugia	Italian	Carriers	99	1988	2015	28361595	Frequencies 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

Name	Department	Organisation type
DEferiprone Evaluation in Paediatrics (DEEP)		Research Project/Multi-Center Study
European Genetics Foundation (EGF)		Research Center, Higher Education
IRCCS Istituto Giannina Gaslini	Laboratory of Human Genetics	Research Center, Medical Center
Ospedale Oncologico di Riferimento Regionale		Medical Center
Ospedali Riuniti Villa Sofia-Cervello	Campus of Haematology “Franco e Piera Cutino”	Research Center, Medical Center, Diagnostic Center
Policlinico San Matteo Pavia Fondazione IRCCS (Il San Matteo)	Medical Genetics Laboratory	Research Center, Medical Center, Diagnostic Center
Policlinico San Matteo Pavia Fondazione IRCCS (Il San Matteo)	Department of hematology	Research Center, Medical Center, Diagnostic Center
San Luigi Gonzaga University Hospital	Clinical and microbiological analysis laboratory	Research Center, Diagnostic Center
Scientific Institute H.S.Raffaele		Research Center, Diagnostic Center
Thalassaemia Modular Stratification System for personalized therapy of beta-thalassaemia (THALAMOSS)		Research Project/Multi-Center Study
Thalassemia Center – San Luigi University Hospital		Research Center, Diagnostic Center
The University of Cagliari (UNICA)		Research Center, Higher Education
Università degli Studi di Ferrara	Department of Biochemistry and Molecular Biology	Research Center
Università Vita-Salute San Raffaele (IniSR)		Higher Education
University Federico II of Naples (CEINGE)	Dept. of Molecular Medicine and Medical Biotechnologies	Research 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/A	Contributor(s)	Date	Comments
1	Moi, Paolo	2016-03-24	Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge.
2	Maggio, Aurelio	2016-09-16	Epidemiological 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.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaMaps are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

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Healthcare Policies

Health-policy	Select one Answer	Comment
Prevention programme
SCD newborn screening
Prenatal screening
Antenatal screening
Haemoglobinopathies patient registry
Rare disease patient registry
Dedicated treatment centres
Blood transfusion availability
Iron chelation availability
MRI facilities
Patient associations
Genetic counselling

Status of major Haemoglobinopathies

In Expected Incidence of β-thalassaemia and sickle cell disease please provide the number of expected affected births/year (without prevention).
In Incidence of β-thalassaemia and sickle cell disease please provide the number of affected births/year (after prevention).

Haemoglobinopathy	Provide value		Comment
Prevalence of β-thalassaemia carriers		% of the population
Prevalence of sickle cell disease carriers		% of the population
Prevalence of α-thalassaemia carriers		% of the population
Prevalence of Hb E carriers		% of the population
Prevalence of Hb C carriers		% of the population
Expected incidence of β-thalassaemia		expected affected births/year
Expected incidence of sickle cell disease		expected affected births/year
Expected incidence of α-thalassaemia		expected affected births/year
Incidence of β-thalassaemia		affected births/year
Incidence of sickle cell disease		affected births/year
Incidence of α-thalassaemia		affected births/year
Known β-thalassaemia patients		patients
Known sickle cell disease patients		patients

Mutation Frequencies

Please provide details about publications reporting mutation frequencies in the country of reference (either country-wide studies or region-specific studies).

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