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 Malaysia
Malaysia |
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Haemoglobinopathy-specific healthcare policy information for Malaysia
Healthcare policy | Comment/Info | Reference | |
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Prevention programme: | Yes (National) | The National Thalassaemia Programme started in 2004 for the identification of at-risk couples through cascade screening. | [PMID: 27040959] |
SCD newborn screening: | No | ||
Prenatal screening: | No | Prenatal screening of thalassaemia is very low although it can be conducted on request, and the cost is covered by the national health system if conducted in the government hospitals. | [PMID: 32601117] |
Haemoglobinopathies patient registry: | Yes (National) | The Malaysian Thalassaemia Registry was launched on May 2007 [https://www.mytalasemia.net.my/] | [PMID: 32601117] |
Rare disease patient registry: | No | [PMID: 32240232] | |
Dedicated treatment centres: | Yes (National) | ||
Blood transfusion availability: | Yes (National) | Source: Clinical Practice Guidelines,`Management of Transfusion Dependent Thalassemia’)( http://www.acadmed.org.my/index.cfm?&menuid=67) | |
Iron chelation availability: | Yes (National) | Free supply of all three chelators; DFO, DFP and DFX.. | [PMID: 25500846] |
MRI facilities: | Yes (National) | Source: Clinical Practice Guidelines,`Management of Transfusion Dependent Thalassemia’)( http://www.acadmed.org.my/index.cfm?&menuid=67) | |
Patient associations: | Yes (National) | ||
Genetic counselling: | Yes (National) |
Prevalence and incidence of major haemoglobinopathies in Malaysia
Haemoglobinopathy | Comment/Info | Reference | |
---|---|---|---|
Prevalence of β-thalassaemia carriers: | 4 % of the population | 3.5 - 4% (Source: the Malaysian Thalassemia Registry). | [PMID: 21901940] |
Prevalence of sickle cell disease carriers: | 1 % of the population | Less than 1% prevalence. From: Thalassaemia Reports 2012, TIF Pan-Asian Conference. | |
Prevalence of α-thalassaemia carriers: | 4.5 % of the population | [PMID: 22390120] | |
Prevalence of Hb E carriers: | 3.4 % of the population | 3-40% depending on the region | [PMID: 23296641] |
Prevalence of Hb C carriers: | 0.9 % of the population | ||
Expected incidence of β-thalassaemia: | 727 expected affected births/year | [PMID: 24672827] | |
Incidence of β-thalassaemia: | 350 affected births/year | 150-350 new cases each year, Including all thalassaemias | [PMID: 16813662] |
Known β-thalassaemia patients: | 3424 patients | 2007-November 2018, Malaysian Thalassaemia Registry data (2676 β-TM, 748 β-TI) | [PMID: 326011117] |
Global Burden of Disease data for Malaysia
Migration data for Malaysia
Mutation frequencies in Malaysia
Overview (most frequent mutations with their observed average values and range)
α-locus
-α3.7 (type I): 44.8 % (15.8 % – 80 %) | --SEA: 26.94 % (0.9 % – 75.8 %) |
CD 142 (TAA>CAA) >172aa (Hb Constant Spring): 16.95 % (1.8 % – 38.9 %) | Init CD ATG>A-G: 11.5 % |
β-locus
CD 26 GAG>AAG [Glu>Lys] (HbE): 31.58 % (4.7 % – 78.79 %) | IVS I-5 (G>C): 23.28 % (1.2 % – 51.52 %) |
CD 41/42 (-CTTT): 19.16 % (5 % – 50 %) | IVS I-1 (G>T): 10.31 % (1.2 % – 27.27 %) |
Detailed mutation frequencies
Entry ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
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22921 | β-locus | Kelantan | Kelantan Malay | Patients | 66 | 2008 | 19122960 | Frequencies are shown for beta-globin gene mutations. Study samples were representative of thalassaemia major patients from the Paediatrics Daycare Unit, Hospital Universiti Sains Malaysia, Kelantan. Six mutations were tested, of which CD 15 G>A was not detected in the studied sample. | ||
22922 | β-locus | Country-wide | Multi-ethnic | Carriers | 322 | 1996 | 2005 | 18376108 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the University of Malaya Medical Centre at Kuala Lumpur. Most were Chinese (80.4%), followed by Malay (8.7%), indigenous groups (7.5%; Bidayuh, Dusun, Murut or Minang tribes from East Malaysia), and other ethnic groups (2.2%; Thia, Filipino, Thai/Indian, Chinese/Indian, Japanese/Filipino). | |
22923 | β-locus | Kuala Lumpur | Malay | Patients | 41 | 1989 | 2736244 | Frequencies are shown for beta-globin gene mutations. Study samples origininated from West Malaysia and were acquired from the National University at Kuala Lumpur. | ||
22924 | β-locus | Kuala Lumpur | Malay | Patients | 141 | 1988 | 1992 | 1634362 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haematology Clinic of the National University of Malaysia at Kuala Lumpur. | |
22925 | β-locus | Kuala Lumpur | Chinese | Patients | 76 | 1988 | 1992 | 1634362 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haematology Clinic of the National University of Malaysia at Kuala Lumpur. | |
22926 | α-locus | Country-wide | Malay | Carriers | 1925 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. The study samples collected were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur. | |
22927 | α-locus | Country-wide | Chinese | Carriers | 558 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. The study samples collected were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur. | |
22928 | α-locus | Country-wide | Indian | Carriers | 75 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. The study samples collected were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur. | |
22929 | α-locus | Country-wide | Sabah | Carriers | 312 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. The study samples collected were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur. | |
22930 | α-locus | Country-wide | Sarawak | Carriers | 26 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. The study samples collected were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur. | |
22931 | α-locus | Country-wide | Orang Asli | Carriers | 19 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. The study samples collected were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur. | |
22932 | α-locus | Country-wide | Multi-ethnic | Carriers | 3138 | 2007 | 2010 | 24025420 | Frequencies are shown for alpha-globin gene mutations. Study samples were referred from various hospitals to the Institute for Medical Research at Kuala Lumpur, and included Malays, Malaysian Chinese, Malaysian Indians, Orang Asli (aboriginal people) and indigenous citizenries of Sabah (mainly of KadazanDusun, Bajau, Murut, Rugus, Sungai, Suluk, Dusun and Bisaya sub-ethnic groups) and Sarawak (mainly of Melanau, Bidayuh, Kedayan and Iban sub-ethnic groups). | |
22933 | β-locus | Country-wide | Multi-ethnic | Carriers | 169 | 2012 | 23613656 | Frequencies are shown for beta-globin gene mutations. Study samples were obtained from various parts of Peninsular Malaysia, Sabah and Sarawak, and included Malays, Chinese, Indian, and indigenous citizenries of East and West Malaysia. | ||
22934 | β-locus | Country-wide | Multi-ethnic | Patients | 78 | 2012 | 23613656 | Frequencies are shown for beta-globin gene mutations. Study samples were obtained from various parts of Peninsular Malaysia, Sabah and Sarawak, and included Malays, Chinese, Indian, and indigenous citizenries of East and West Malaysia. | ||
22935 | α-locus | Country-wide | Multi-ethnic | Carriers | 361 | 2012 | 23770946 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Study samples were obtained from the states of Penang, Melaka, and Sabah, and mainly were of Malay, Chinese, Indian, and Sabah ethnic groups. | ||
22936 | α-locus | Country-wide | Senoi | Carriers | 113 | 2012 | 2013 | 28620953 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Study samples were of the Sinoi sub-ethnic groups Mah Meri, Semoq Beri, Che Wong, Jah Hut, Semai, and Temiar. | |
22937 | α-locus | Penang | Malay | Patients | 56 | 2014 | 24857915 | Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Hospital Seberang Jaya. | ||
22938 | β-locus | Penang | Malay | Patients | 71 | 2014 | 24857915 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. Study samples were acquired from the Hospital Seberang Jaya. |
Organisations in Malaysia
A list of all organisations in Malaysia 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 |
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Institute for Medical Research (IMR) | Research Center, Medical Center, Diagnostic Center | |
Universiti Sains Malaysia (USM) | School of Medical Sciences | Research Center, Medical Center, Higher Education |
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Zilfalil, Bin Alwi | 2016-10-17 | Epidemiological data 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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