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 Egypt


Egypt
Continent: Africa
Capital: Cairo
Population: 80471869
Area (in sq km): 1001450.0

Haemoglobinopathy-specific healthcare policy information for Egypt

Healthcare policyComment/InfoReference
Prevention programme: NoPremarital/preconception screening offered upon request.
SCD newborn screening: No[PMID: 24921462]
Prenatal screening: NoAvailable on demand. Offered for at-risk pregnancies on request in certain centers.[PMID: 29751732]
Antenatal screening: NoAvailable on demand. Offered for at-risk pregnancies on request in certain centers.[PMID: 29751732]
Haemoglobinopathies patient registry: No
Rare disease patient registry: NoNMD-specific registry. From: http://africa-rare.org/
Dedicated treatment centres: Yes (National)
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)Iron chelations (DFO, DFP, DFX) are available with the license of the Ministry of Health. From: 2nd MEGMA Conference Proceedings
MRI facilities: Yes (National)
Patient associations: Yes (National)E.g.: Egyptian Thalassaemic Friends Association.
Genetic counselling: NoAvailable on demand.

  Prevalence and incidence of major haemoglobinopathies in Egypt

HaemoglobinopathyComment/InfoReference
Prevalence of β-thalassaemia carriers: 5.3 % of the populationRanges between 5 and 9%.[PMID: 24672827]
Prevalence of sickle cell disease carriers: 2.54 % of the populationFrom: doi.org/10.1007/s12687-020-00463-7
Expected incidence of β-thalassaemia: 1423 expected affected births/year[PMID: 24672827]
Expected incidence of sickle cell disease: 109 expected affected births/year[PMID: 24672827]
Incidence of sickle cell disease: 1196 affected births/yearMedian value estimated using statistical model and demographic data.[PMID: 23103089]
Known β-thalassaemia patients: 9912 patients[PMID: 24672827]
Known sickle cell disease patients: 1166 patients[PMID: 24672827]

Mutation frequencies in Egypt

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

 β-locus

IVS I-110 G>A: 41.56 % (20 % – 60 %)IVS I-6 (T>C): 25.88 % (17.6 % – 40 %)
IVS I-1 G>A: 14.65 % (7.4 % – 26.7 %) IVS I-5 (G>C): 10 %

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
21996β-locusCountry-wideEgyptianPatients190200717365006Frequencies are shown for beta-globin gene mutations. Study samples were collected from Hospital haematology units in Cairo, Tanta, Alexandria (Lower Egypt), Fayoum (Upper Egypt) and the Nile Delta.
21997β-locusSuez CanalEgyptianPatients51200717365005Frequencies are shown for beta-globin gene mutations. Study samples were acquired from outpatient clinics at hospitals in Ismailia, Port Said and Sinai, and origininated from the Suez Canal area.
21998β-locusIsmailiaEgyptianPatients31200717365005Frequencies are shown for beta-globin gene mutations.
21999β-locusPort SaidEgyptianPatients15200717365005Frequencies are shown for beta-globin gene mutations.
22000β-locusUpper EgyptEgyptianPatients188201021077761Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo. Reported frequencies were representative of beta-thalassaemia patients from Upper Egypt Governorates.
22001β-locusAl MinyaEgyptianPatients16201021077761Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo.
22002β-locusAsyutEgyptianPatients100201021077761Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo.
22003β-locusSuhajEgyptianPatients40201021077761Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo.
22004β-locusQinaEgyptianPatients32201021077761Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo.
22005β-locusCountry-wideEgyptianPatients400201425408857Frequencies are shown for beta-globin gene mutations. Study samples originated from most of Egypt's Governorates (mainly from Alexandria, Cairo, Al-Gharbiyah, Al Manofia, Kafr El Sheikh, Sohag, Al-Fayoum, Al Kaluobia, Port Said, Al-Dakhlia, Domiat, Al Jizaz, and Al-Beheira).
22006β-locusAlexandriaEgyptianPatients94201525617386Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Departments of Human Genetics and Haematology, Medical Research Institute, University of Alexandria.

  Organisations in Egypt

A list of all organisations in Egypt 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
Cairo UniversityPediatric HematologyMedical Center, Higher Education
Fayoum University (FU)Faculty of Medicine - Clinical and Chemical Pathology DepartmentHigher Education
National Research Centre (NRC)Research Center

 Microattributions

A/AContributor(s)DateComments
1El-Kamah, Ghada2021-12-18Information on healthcare policies and the status of major haemoglobinopathies were 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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