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 Saudi Arabia

Saudi Arabia

Continent:	Asia
Capital:	Riyadh
Population:	25731776
Area (in sq km):	1960582.0

Haemoglobinopathy-specific healthcare policy information for Saudi Arabia

Healthcare policy		Comment/Info	Reference
Prevention programme:	Yes (National)	Premarital screening was mandated by a royal decree in 2004.	[PMID: 11773575]
SCD newborn screening:	No	A national haemoglobinopathy program is reported; inclusion of SCD is unclear.	[PMID: 33073010]
Prenatal screening:	No		[PMID: 11773575]
Antenatal screening:	Yes (National)	Voluntary.	[PMID: 24921462]
Haemoglobinopathies patient registry:	Yes (Regional)	E.g., Pediatric Non-Malignant Blood Disorders Registry at King Faisal Specialist Hospital and Research Center developed in 2015, including haemoglobinopathies; soon be expanded across the whole Kingdom [www.kfshrc.edu.sa]	[PMID: 31213746]
Patient associations:	Yes (National)	E.g.: Saudi Friends’ Charity of Thalassaemia & Sickle Cell Anaemia Society.
Genetic counselling:	Yes (National)	Medical consultation sessions at more than 131 healthcare centers across the Kingdom. Counselling Clinic Guidelines for Premarital Screening via the Saudi Ministry of Health in 2015.	[PMID: 34234536]

Prevalence and incidence of major haemoglobinopathies in Saudi Arabia

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	2.37 % of the population		[PMID: 24672827]
Prevalence of sickle cell disease carriers:	4.2 % of the population		[PMID: 24672827]
Prevalence of α-thalassaemia carriers:	7.5 % of the population	In the range of 5-10%.	[PMID: 28135306]
Expected incidence of β-thalassaemia:	184 expected affected births/year		[PMID: 24672827]
Expected incidence of sickle cell disease:	473 expected affected births/year		[PMID: 24672827]
Incidence of sickle cell disease:	691 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]
Known β-thalassaemia patients:	600 patients		[PMID: 24672827]
Known sickle cell disease patients:	26000 patients		[PMID: 24672827]

Global Burden of Disease data for Saudi Arabia

Migration data for Saudi Arabia

Mutation frequencies in Saudi Arabia

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

α-locus

-α3.7 (type I): 86.56 %	IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor: 7.46 %
Poly A (AATAAA>AATAAG): 5.97 %

β-locus

IVS I-110 G>A: 26.8 % (13.5 % – 40 %)	CD 39 CAG>TAG [Gln>STOP]: 17.57 % (7.7 % – 32.1 %)
IVS I-1 G>A: 15.35 % (4 % – 26.7 %)	IVS II-1 G>A: 15.17 % (12.9 % – 17.5 %)

Detailed mutation frequencies

Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23352	α-locus	Jazan	Saudi	Carriers	134	2018	2019	33484530	Frequencies are shown for alpha-globin gene mutations and were calculated by ITHANET. Study samples were collected at King Fahad Central Hospital in Jazan from April 2018 to May 2019. The study used the α–globin StripAssay kit, which screens for 21 different α–globin genomic variations.
23353	β-locus	Western region	Saudi	Patients	297		2011	21797702	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Paediatric Haematology Clinic, King AbdulAziz University Hospital, Jeddah, and other hospitals in the western region.
23354	β-locus	Eastern region	Saudi	Patients	53	1997	1999	10636742	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the hospitals in the eastern region of Saudi Arabia.
23355	β-locus	Country-wide	Yemeni	Patients	30		1995	8718694	Frequencies are shown for beta-globin gene mutations from patients living in Saudi Arabia and attending Ministry of Health Hospitals and the King Khalid University Teaching Hospital in Riyadh.
23356	β-locus	Country-wide	Saudi	Patients	186		1995	7590760	Frequencies are shown for beta-globin gene mutations.

Organisations in Saudi Arabia

A list of all organisations in Saudi Arabia 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
King Faisal Specialist Hospital & Research Centre (KFSH&RC)	Obstetrics & Gynaecology	Research Center, Medical Center, Higher Education, Diagnostic Center

Microattributions

No microattibutions were provided for Saudi Arabia. Please contact us, if you are willing to review existing information or provide new data.

To provide new epidemiological information and/or report mistakes, please register/log in first or use the Contact Us form.

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.

Note: The information you provide for the specific country will appear on the IthaMaps website and your contribution will be acknowledged.

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ORCID

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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