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 |
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Haemoglobinopathy-specific healthcare policy information for Egypt
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| Prevention programme: | No | Premarital/preconception screening offered upon request. | |
| SCD newborn screening: | No | From: 2nd MEGMA Conference Proceedings | |
| Prenatal screening: | No | Available on demand. Offered for at-risk pregnancies on request in certain centers. | [PMID: 29751732] |
| Antenatal screening: | No | Available on demand. Offered for at-risk pregnancies on request in certain centers. | [PMID: 29751732] |
| Haemoglobinopathies patient registry: | No | ||
| Rare disease patient registry: | No | NMD-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: | No | Available on demand. |
Prevalence and incidence of major haemoglobinopathies in Egypt
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| Prevalence of β-thalassaemia carriers: | 5.3 % of the population | Ranges between 5 and 9%. | [PMID: 24672827] |
| Prevalence of sickle cell disease carriers: | 2.54 % of the population | From: 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/year | Median 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] |
Global Burden of Disease data for Egypt
Migration data for Egypt
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 ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 23260 | β-locus | Country-wide | Egyptian | Patients | 190 | 2007 | 17365006 | Frequencies 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. | ||
| 23261 | β-locus | Suez Canal | Egyptian | Patients | 51 | 2007 | 17365005 | Frequencies 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. | ||
| 23262 | β-locus | Ismailia | Egyptian | Patients | 31 | 2007 | 17365005 | Frequencies are shown for beta-globin gene mutations. | ||
| 23263 | β-locus | Port Said | Egyptian | Patients | 15 | 2007 | 17365005 | Frequencies are shown for beta-globin gene mutations. | ||
| 23264 | β-locus | Upper Egypt | Egyptian | Patients | 188 | 2010 | 21077761 | Frequencies 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. | ||
| 23265 | β-locus | Al Minya | Egyptian | Patients | 16 | 2010 | 21077761 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo. | ||
| 23266 | β-locus | Asyut | Egyptian | Patients | 100 | 2010 | 21077761 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo. | ||
| 23267 | β-locus | Suhaj | Egyptian | Patients | 40 | 2010 | 21077761 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo. | ||
| 23268 | β-locus | Qina | Egyptian | Patients | 32 | 2010 | 21077761 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Asyut University Hospital, Cairo. | ||
| 23269 | β-locus | Country-wide | Egyptian | Patients | 400 | 2014 | 25408857 | Frequencies 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). | ||
| 23270 | β-locus | Alexandria | Egyptian | Patients | 94 | 2015 | 25617386 | Frequencies 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
| Name | Department | Organisation type |
|---|---|---|
| Cairo University | Pediatric Hematology | Medical Center, Higher Education |
| Fayoum University (FU) | Faculty of Medicine - Clinical and Chemical Pathology Department | Higher Education |
| National Research Centre (NRC) | Research Center |
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | El-Kamah, Ghada | 2021-12-18 | Information 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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