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
Continent: Asia
Capital: Kuala Lumpur
Population: 28274729
Area (in sq km): 329750.0

Haemoglobinopathy-specific healthcare policy information for Malaysia

Healthcare policyComment/InfoReference
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: Yes (Regional)Available at some community clinics, public hospitals, private maternity clinics and private hospitals and prenatal screening services should be offered for those who request for it.[PMID: 16329572]
Antenatal screening: Yes (Regional)Available at some community clinics, public hospitals, private maternity clinics and private hospitals[PMID: 25156332]
Haemoglobinopathies patient registry: Yes (National)Hospital-based; TIF report on South East Asian Nations, Aug. 2013
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)[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

HaemoglobinopathyComment/InfoReference
Prevalence of β-thalassaemia carriers: 4 % of the population3.5 - 4% (Source: the Malaysian Thalassemia Registry). [PMID: 21901940]
Prevalence of sickle cell disease carriers: 1 % of the populationLess 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 population3-40% 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/year150-350 new cases each year, Including all thalassaemias [PMID: 16813662]
Known β-thalassaemia patients: 4541 patientsSource: the Malaysian thalassemia registry

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 IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
21080β-locusKelantan Kelantan MalayPatients66200819122960Frequencies 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.
21081β-locusCountry-wideMulti-ethnicCarriers3221996200518376108Frequencies 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).
21082β-locusKuala LumpurMalayPatients4119892736244Frequencies are shown for beta-globin gene mutations. Study samples origininated from West Malaysia and were acquired from the National University at Kuala Lumpur.
21083β-locusKuala LumpurMalayPatients141198819921634362Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haematology Clinic of the National University of Malaysia at Kuala Lumpur.
21084β-locusKuala LumpurChinesePatients76198819921634362Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haematology Clinic of the National University of Malaysia at Kuala Lumpur.
21085α-locusCountry-wideMalayCarriers19252007201024025420Frequencies 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.
21086α-locusCountry-wideChineseCarriers5582007201024025420Frequencies 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.
21087α-locusCountry-wideIndianCarriers752007201024025420Frequencies 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.
21088α-locusCountry-wideSabahCarriers3122007201024025420Frequencies 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.
21089α-locusCountry-wideSarawakCarriers262007201024025420Frequencies 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.
21090α-locusCountry-wideOrang AsliCarriers192007201024025420Frequencies 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.
21091α-locusCountry-wideMulti-ethnicCarriers31382007201024025420Frequencies 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).
21092β-locusCountry-wideMulti-ethnicCarriers169201223613656Frequencies 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.
21093β-locusCountry-wideMulti-ethnicPatients78201223613656Frequencies 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.
21094α-locusCountry-wideMulti-ethnicCarriers361201223770946Frequencies 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.
21095α-locusCountry-wideSenoiCarriers1132012201328620953Frequencies 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.
21096α-locusPenangMalayPatients56201424857915Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Hospital Seberang Jaya.
21097β-locusPenangMalayPatients71201424857915Frequencies 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

NameDepartmentOrganisation type
Institute for Medical Research (IMR)Research Center, Medical Center, Diagnostic Center
Universiti Sains Malaysia (USM)School of Medical SciencesResearch Center, Medical Center, Higher Education

 Microattributions

A/AContributor(s)DateComments
1Zilfalil, Bin Alwi2016-10-17Epidemiological 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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