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 Pakistan

Pakistan

Continent:	Asia
Capital:	Islamabad
Population:	184404791
Area (in sq km):	803940.0

Haemoglobinopathy-specific healthcare policy information for Pakistan

Healthcare policy		Comment/Info	Reference
Prevention programme:	Yes (Regional)	Thalassemia prevention legislations exist in Sindh and Balichistan, mandatory premarital screening [DOI: 10.4103/GJTM.GJTM_72_19]
SCD newborn screening:	No	Pilot NBS projects including SCA and other haemoglobinopathies [From: JRMC 2021, 25(1):72]
Prenatal screening:	Yes (Regional)	Available in a few urban cities.	[PMID: 22258353]
Haemoglobinopathies patient registry:	No		[PMID: 28770881]
Dedicated treatment centres:	Yes (National)	Thalassemia patients treated in public hospitals and in private/nongovernment organizations (NGO) thalassemia centers across the country, particularly in the larger urban centers [DOI: 10.4103/GJTM.GJTM_72_19]
Blood transfusion availability:	Yes (National)	From: 2011 WHO Report WHO-EM/NCD/068/E.
Iron chelation availability:	Yes (National)	From: 2011 WHO Report WHO-EM/NCD/068/E.
Patient associations:	Yes (National)	E.g.: Thalassaemia Society of Pakistan; Thalassaemia Patients & Parents Society of Pakistan.
Genetic counselling:	Yes (Regional)	As part of the prenatal diagnosis service.	[PMID: 17987604]

Prevalence and incidence of major haemoglobinopathies in Pakistan

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	5 % of the population		[PMID: 22392582]
Prevalence of sickle cell disease carriers:	0.27 % of the population		[PMID: 24672827]
Prevalence of α-thalassaemia carriers:	2.4 % of the population
Expected incidence of β-thalassaemia:	4600 expected affected births/year		[PMID: 24672827]
Expected incidence of sickle cell disease:	356 expected affected births/year		[PMID: 24672827]
Incidence of β-thalassaemia:	6000 affected births/year		[PMID: 22392582]
Incidence of sickle cell disease:	228 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]
Known β-thalassaemia patients:	50000 patients		[PMID: 24672827]

Global Burden of Disease data for Pakistan

Migration data for Pakistan

Mutation frequencies in Pakistan

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

β-locus

IVS I-5 (G>C): 37.12 % (7.5 % – 84.8 %)	CD 8/9 (+G): 26.77 % (7.6 % – 51.2 %)
CD 41/42 (-CTTT): 9.65 % (0.6 % – 20 %)	619 bp deletion: 8.57 % (1.08 % – 28.64 %)

Detailed mutation frequencies

Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23399	β-locus	Khyber Pakhtunkhwa	Pakistani	Patients	120		2019	30868793	Frequencies are shown for beta-globin gene mutations. Samples were recruited from Hamza foundation and Fatamid foundation, Peshawar.
23400	β-locus	Khyber Pakhtunkhwa	Pakistani	Carriers and Patients	175		2018	30200837	Frequencies are shown for beta-globin gene mutations. Samples represent beta-thalassaemia carriers (n=73) and patients (n=51) in affected populations of North Waziristan Agency, Khyber Pakhtunkhwa. Six loci were tested of which CD 15 G>A (HBB:c.47G>A) was not detected in the studied population.
23401	β-locus	Country-wide	Punjabi, Gujrati, Pashtoon, Balochi, Sindhi, Urdu speaking	Patients	115	2011	2013	25707679	Frequencies are shown for beta-globin gene mutations. Samples represent thalassaemia intermedia patients from six ethnic groups (Punjabi, Gujrati, Pashtoon, Balochi, Sindhi, Urdu speaking).
23402	β-locus	Punjab, Sindh, Khyber Pakhtunkhwa	Punjabi, Pashtun (Pathan), Sindhi, Muhajirs, Balochi	Patients	303	2011	2013	27263053	Frequencies are shown for beta-globin gene mutations. Samples were collected from three provinces and four cities; Punjab (76.4%; Lahore and Multan), Sindh (14.7%; Karachi) and Khyber Pakhtunkhwa (9%; Peshawar). They represent transfusion-dependent thalassaemia patients mainly of Punjabi, Pashtun (Pathan), Sindhi, Muhajirs and Balochi ethnic groups. Three mutations tested were not found in the studied population: HBB:c.-140C>T, HBB:c.178_179insT, HBB:c.93G>C.
23403	β-locus	Khyber Pakhtunkhwa	Pakistani	Carriers and Patients	209		2020	32079421	Frequencies are shown for beta-globin gene mutations. Six mutations were investigated, of which CD 15 TGG>TAG (HBB:c.47G>A), IVS I-1 G>T (HBB:c.92+1G>T) and CD 41/42 -CTTT (HBB:c.126_129delCTTT) were not detected in the studied population. All samples originated from different regions of Kohat (63 homozygotes, 83 heterozygotes).
23404	β-locus	Sindh	Multi-ethnic	Carriers	750	2003	2010	22392582	Frequencies are shown for beta-globin gene mutations. Reported data is representative of a multi-ethnic population. Study samples were obtained from the Clinics of the Aga Khan University Hospital, Karachi.
23405	β-locus	Sindh	Sindhi	Carriers	304	2003	2010	22392582	Frequencies are shown for beta-globin gene mutations. Study samples were obtained from the Clinics of the Aga Khan University Hospital, Karachi.
23406	β-locus	Sindh	Punjabi	Carriers	118	2003	2010	22392582	Frequencies are shown for beta-globin gene mutations. Study samples were obtained from the Clinics of the Aga Khan University Hospital, Karachi.
23407	β-locus	Sindh	Balochi	Carriers	66	2003	2010	22392582	Frequencies are shown for beta-globin gene mutations. Study samples were obtained from the Clinics of the Aga Khan University Hospital, Karachi.
23408	β-locus	Sindh	Mohajir	Carriers	188	2003	2010	22392582	Frequencies are shown for beta-globin gene mutations. Study samples were obtained from the Clinics of the Aga Khan University Hospital, Karachi.
23409	β-locus	Sindh	Pakhtoon	Carriers	74	2003	2010	22392582	Frequencies are shown for beta-globin gene mutations. Study samples were obtained from the Clinics of the Aga Khan University Hospital, Karachi.
23410	β-locus	Sindh	Punjabi	Carriers and Patients	120	2004	2006	21218725	Frequencies are shown for beta-globin gene mutations. Study samples were collected from different transfusion centres, hospitals and diagnostic laboratories of Karachi.
23411	β-locus	Sindh	Pathan	Carriers and Patients	70	2004	2006	21218725	Frequencies are shown for beta-globin gene mutations. Study samples were collected from different transfusion centres, hospitals and diagnostic laboratories of Karachi.
23412	β-locus	Sindh	Baluchi	Carriers and Patients	70	2004	2006	21218725	Frequencies are shown for beta-globin gene mutations. Study samples were collected from different transfusion centres, hospitals and diagnostic laboratories of Karachi.
23413	β-locus	Sindh	Urdu speaking	Carriers and Patients	150	2004	2006	21218725	Frequencies are shown for beta-globin gene mutations. Study samples were collected from different transfusion centres, hospitals and diagnostic laboratories of Karachi.
23414	β-locus	Sindh	Sindhi	Carriers and Patients	90	2004	2006	21218725	Frequencies are shown for beta-globin gene mutations. Study samples were collected from different transfusion centres, hospitals and diagnostic laboratories of Karachi.
23415	β-locus	Sindh	Multi-ethnic	Carriers and Patients	500	2004	2006	21218725	Frequencies are shown for beta-globin gene mutations. Study samples were collected from different transfusion centres, hospitals and diagnostic laboratories of Karachi.
23416	β-locus	Country-wide	Mutli-ethnic	Carriers and Patients	678		2001	11791873	Frequencies are shown for beta-globin gene mutations. The majority of samples studied were patients and were collected from the four provinces of Pakistan (Sindh, Baluchistan, Punjab and the North-West Frontier Province).
23417	β-locus	Punjab	Pakistani	Patients	888		2006	16533735	Frequencies are shown for beta-globin gene mutations. Study samples were collected from various regions of Punjab province including Faisalabad, Lahore, Sargodha, Dera Ghazi (D.G) Khan, Bahawalpur, Multan, and twin cities of Rawalpindi-Islamabad.
23418	β-locus	Punjab	Punjabi	Unknown	881		2010	22460247	Meta-analysis study. Frequencies are shown for beta-globin gene mutations.
23419	β-locus	Sindh	Sindhi	Unknown	426		2010	22460247	Meta-analysis study. Frequencies are shown for beta-globin gene mutations.
23420	β-locus	Northwest Frontier Province (NWFP)	Multi-ethnic	Unknown	369		2010	22460247	Meta-analysis study. Frequencies are shown for beta-globin gene mutations. Study samples were mainly of Pashtun and North West Pakistan ancestry.
23421	β-locus	Balochistan	Balochi	Unknown	166		2010	22460247	Meta-analysis study. Frequencies are shown for beta-globin gene mutations.
23422	β-locus	Punjab	Pakistani	Carriers	210	2010	2012	22258353	Frequencies are shown for beta-globin gene mutations. Samples originated from Multan and adjoining districts.

Organisations in Pakistan

Organisations in Pakistan are currently not available

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

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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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