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 Cyprus

Cyprus

Continent:	Europe
Capital:	Nicosia
Population:	1102677
Area (in sq km):	9250.0

Haemoglobinopathy-specific healthcare policy information for Cyprus

Healthcare policy		Comment/Info	Reference
Prevention programme:	Yes (National)	Based on premarital screening; since 1973.	[PMID: 6109998]
SCD newborn screening:	No	SCD is not included in the neonatal screening panel.	[PMID: 33808002]
Prenatal screening:	Yes (National)	Since 1973.	[PMID: 11773575]
Antenatal screening:	Yes (National)		[PMID: 24980780]
Haemoglobinopathies patient registry:	Yes (National)	Cyprus Thalassaemia Patients Registry; covers all haemoglobinopathies [ERN-EuroBloodNet_Report on existing registries for RHD_2018]	[PMID: 30334577]
Rare disease patient registry:	No		[PMID: 24980780]
Dedicated treatment centres:	Yes (National)	ENERCA report Aug. 2013.
Blood transfusion availability:	Yes (National)
Iron chelation availability:	Yes (National)
Patient associations:	Yes (National)	e.g.: Cyprus Anti-Anaemia Association.
Genetic counselling:	Yes (National)		[PMID: 11773575]

Prevalence and incidence of major haemoglobinopathies in Cyprus

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	12 % of the population		[PMID: 24006929]
Prevalence of sickle cell disease carriers:	0.27 % of the population		[PMID: 24672827]
Prevalence of α-thalassaemia carriers:	20 % of the population		[PMID: 10975437]
Expected incidence of β-thalassaemia:	52 expected affected births/year	Extends between 50-60.	[PMID: 24672827]
Expected incidence of sickle cell disease:	2 expected affected births/year	Mostly sickle cell/beta-thalassaemia.
Incidence of β-thalassaemia:	0 affected births/year	Extends between 0-6 new cases.
Incidence of sickle cell disease:	2 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]
Known β-thalassaemia patients:	592 patients		[PMID: 27199182]
Known sickle cell disease patients:	18 patients		[PMID: 27199182]

Global Burden of Disease data for Cyprus

Migration data for Cyprus

Mutation frequencies in Cyprus

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

α-locus

-α3.7 (type I): 62.89 % (50.6 % – 69.28 %)	IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor: 15.12 % (12.59 % – 17.57 %)
--MED I: 13.62 % (8.78 % – 23.44 %)	-(α)20.5: 3.07 % (1.76 % – 4.95 %)

β-locus

IVS I-110 G>A: 77.56 % (68.33 % – 92.16 %)	CD 27 GCC>TCC [Ala>Ser] (Hb A2-Yialousa): 60.7 %
CD 4 ACT>ATT [Thr>Ile]: 17.8 %	IVS I-6 (T>C): 8.8 % (3.27 % – 14.14 %)

Detailed mutation frequencies

Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23134	β-locus	Larnaca	Greek Cypriot	Carriers	468	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations. Data for Larnaca is merged with the smaller Famagusta district.
23135	β-locus	Country-wide	Greek Cypriot	Carriers	2335	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23136	β-locus	Limassol	Greek Cypriot	Carriers	525	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23137	β-locus	Nicosia	Greek Cypriot	Carriers	722	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23138	β-locus	Paphos	Greek Cypriot	Carriers	153	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23139	β-locus	Larnaca	Greek Cypriot	Patients	288	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations. Data for Larnaca is merged with the smaller Famagusta district.
23140	β-locus	Limassol	Greek Cypriot	Patients	306	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23141	β-locus	Nicosia	Greek Cypriot	Patients	502	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23142	β-locus	Paphos	Greek Cypriot	Patients	88	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23143	β-locus	Country-wide	Greek Cypriot	Patients	1184	1995	2015	27199182	Frequencies are shown for beta-globin gene mutations.
23144	α-locus	Larnaca	Greek Cypriot	Carriers	2415	1995	2015	27199182	Frequencies are shown for alpha-globin gene mutations. As these were not randomly sampled, the reported frequencies are an under-representation of the true population of allele frequencies. Data for Larnaca is merged with the smaller Famagusta district.
23145	α-locus	Limassol	Greek Cypriot	Carriers	2184	1995	2015	27199182	Frequencies are shown for alpha-globin gene mutations. As these were not randomly sampled, the reported frequencies are an under-representation of the true population of allele frequencies.
23146	α-locus	Nicosia	Greek Cypriot	Carriers	4145	1995	2015	27199182	Frequencies are shown for alpha-globin gene mutations. As these were not randomly sampled, the reported frequencies are an under-representation of the true population of allele frequencies.
23147	α-locus	Paphos	Greek Cypriot	Carriers	683	1995	2015	27199182	Frequencies are shown for alpha-globin gene mutations. As these were not randomly sampled, the reported frequencies are an under-representation of the true population of allele frequencies.
23148	β-locus	Nicosia	Greek Cypriot	Carriers	56		2006	16987800	Frequencies are shown for delta-globin gene mutations. Study samples were collected intermittently over a 15-month period from the Thalassaemia Centre at the Makarios Hospital, Nicosia, during routine carrier screening.

Organisations in Cyprus

A list of all organisations in Cyprus 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
Archbishop Makarios Hospital III	Thalassaemia Center	Medical Center, Diagnostic Center
Electronic Infrastructure for Thalassaemia Research Network (ITHANET)		Research Project/Multi-Center Study, Scientific Organisation/Network
Larnaca General Hospital	Thalassaemia Center	Medical Center
Limassol General Hospital	Thalassaemia Clinic	Medical Center
Pancyprian Thalassaemia Association		Patient Society
Paphos General Hospital	Thalassaemia Center	Medical Center
Thalassaemia Center (Turkish Cypriot)		Diagnostic Center
Thalassaemia International Federation (TIF)		Scientific Society, Patient Society
The Cyprus Institute of Neurology and Genetics (CING)	Molecular Genetics Thalassaemia Department	Research Center, Medical Center, Higher Education, Diagnostic Center

Microattributions

A/A	Contributor(s)	Date	Comments
1	Angastiniotis, Michael	2016-03-28	Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge.
2	Kleanthous, Marina	2016-07-11	Information reviewed.

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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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