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
Search
General information for China
 China |
|
|---|
Haemoglobinopathy-specific healthcare policy information for China
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| Prevention programme: | Yes (Regional) | Based on premarital/preconception screening. | [PMID: 24921462] |
| SCD newborn screening: | No | Pilot clinical studies using next generation sequencing, including the HBB gene, e.g., NESTS [PMID: 34474183] and NeoSeq [PMID: 34794485] | |
| Prenatal screening: | Yes (National) | PND for β-thalassaemia since 1987. From: Thalassaemia Reports 2012, TIF Pan-Asian Conference. | |
| Antenatal screening: | Yes (Regional) | [PMID: 29751732] | |
| Rare disease patient registry: | Yes (Regional) | Registry launched at local level in 2013. | [PMID: 28359278] |
| Blood transfusion availability: | Yes (Regional) | From: Thalassaemia Reports 2012, TIF Pan-Asian Conference. | |
| Iron chelation availability: | Yes (Regional) | From: Thalassaemia Reports 2012, TIF Pan-Asian Conference. | |
| Patient associations: | Yes (National) | E.g.: Childrens Thalassaemia Foundation Ltd., Guangdong Thalassaemia Association, Guangxi Thalassaemia Federation. | |
| Genetic counselling: | Yes (Regional) | As part of screening service. From: Thalassaemia Reports 2012, TIF Pan-Asian Conference. |
Prevalence and incidence of major haemoglobinopathies in China
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| Prevalence of β-thalassaemia carriers: | 3.5 % of the population | Extends between 1.1-6.78% depending on region. | [PMID: 24672827] |
| Prevalence of α-thalassaemia carriers: | 3.16 % of the population | Extends between 3.16-11.72%. | [PMID: 24587075] |
| Prevalence of Hb E carriers: | 0.42 % of the population | Extends between 0.06-1.6% depending on region. | [PMID: 24672827] |
| Expected incidence of β-thalassaemia: | 902 expected affected births/year | Expected births extend between 2-902 depending on region. | [PMID: 24672827] |
Global Burden of Disease data for China
Migration data for China
Mutation frequencies in China
Overview (most frequent mutations with their observed average values and range)
α-locus
| --SEA: 61.99 % (44.3 % – 76.16 %) | -α3.7 (type I): 24.03 % (16.36 % – 45.2 %) |
| -α4.2: 7.12 % (3.24 % – 13.67 %) | CD 142 (TAA>CAA) >172aa (Hb Constant Spring): 3.72 % (0.92 % – 10.6 %) |
β-locus
| CD 41/42 (-CTTT): 35.78 % (13.39 % – 52.02 %) | IVS II-654 C>T: 23.71 % (3.53 % – 49 %) |
| CD 17 AAG>TAG [Lys>STOP]: 16.6 % (5.2 % – 34.58 %) | CD 92 CAC>CGC (Hb Mozhaisk): 15.7 % |
Detailed mutation frequencies
| Entry ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 23485 | β-locus | Guangdong | Chinese | Carriers | 2523 | 2015 | 2020 | 34752669 | Frequencies are shown for beta-globin gene mutations. All samples originated from the region of Meizhou and were collected from outpatient/inpatient clinics during thalassaemia carrier screening at Meizhou people's hospital from January 2015 to June 2020. | |
| 23486 | α-locus | Guangdong | Chinese | Carriers | 5514 | 2015 | 2020 | 34752669 | Frequencies are shown for beta-globin gene mutations. All samples originated from the region of Meizhou and were collected from outpatient/inpatient clinics during thalassaemia carrier screening at Meizhou people's hospital from January 2015 to June 2020. | |
| 23487 | α-locus | Jiangxi | Chinese Han | Carriers | 433 | 2011 | 2011 | 25000193 | Frequencies are shown for alpha-globin gene mutations and were calculated by ITHANET. Study samples were Chinese Han, predominantly Gan-speaking Han and Hakka Han, recruited from three geographical regions of Jiangxi Province (Ganzhou region, Xinyu region, Nanchang region) between August 2011 and November 2011. They included silent heterozygous mutation, a-thalassemia trait, Hb H disease and a-thalassemia compound b-thalassemia. A commercial thalassemia RDB gene chip was utilized for 5 known thalassemia mutations (–SEA, -α3.7, -α4.2, Hb Constant Spring, Hb Quong Sze). | |
| 23488 | β-locus | Jiangxi | Chinese Han | Carriers | 172 | 2011 | 2011 | 25000193 | Frequencies are shown for beta-globin gene mutations and were calculated by ITHANET. Study samples were Chinese Han, predominantly Gan-speaking Han and Hakka Han, recruited from three geographical regions of Jiangxi Province (Ganzhou region, Xinyu region, Nanchang region) between August 2011 and November 2011. They included b-thalassemia trait and a-thalassemia compound b-thalassemia. A commercial thalassemia RDB gene chip was utilized for 16 known thalassemia mutations (HBB:c.279A>G, HBB:c. -78A>G, HBB:c.250A>C, HBB:c.2T>G, HBB:c.45dupG, HBB:c.52A>T, HBB:c.79G>A, HBB:c.85dupC, HBB:c.94delC, HBB:c.92+1G>T, HBB:c.92+1G>A, HBB:c.92+5G>C, HBB:c.126_129delCTTT, HBB:c.130G>T, HBB:c.217dupA, HBB:c.316-197C>T). | |
| 23489 | β-locus | Fujian | Chinese | Carriers | 2223 | 2013 | 2021 | 34659349 | Frequencies are shown for beta-globin gene mutations and are representative of the mutation spectrum in Quanzhou, Fujian province. Study samples were recruited and tested at the Quanzhou Women’s and Children’s Hospital between January 2013 and March 2021. Gap-PCR, DNA reverse dot blot hybridization, and DNA sequencing were utilized for common and rare thalassemia gene testing. | |
| 23490 | α-locus | Fujian | Chinese | Carriers | 5205 | 2013 | 2021 | 34659349 | Frequencies are shown for alpha-globin gene mutations and are representative of the mutation spectrum in Quanzhou, Fujian province. Study samples were recruited and tested at the Quanzhou Women’s and Children’s Hospital between January 2013 and March 2021. Gap-PCR, DNA reverse dot blot hybridization, and DNA sequencing were utilized for common and rare thalassemia gene testing. | |
| 23491 | α-locus | Fujian | Chinese | Carriers | 2699 | 2016 | 2019 | 34737627 | Frequencies are shown for alpha-globin gene mutations and were calculated by ITHANET. Study samples were tested from May 2016 to December 2019 for eight common alpha-thalassaemia mutations (–SEA/, –THAI/, HKαα, -α4.2/, -α3.7/, αCSα/, αQSα/, αWSα/). | |
| 23492 | β-locus | Guangxi | Chinese | Carriers | 2676 | 2012 | 2014 | 26079343 | Frequencies are shown for beta-globin gene mutations. The majority were found in a heterozygous state (~98%). PCR-Reverse dot blot was used to detect 17 mutations. The study subjects were anemic individuals examined at the Guilin Women and Children Care Hospital, Guilin, Guangxi Zhuang Autonomous Region from May 2012 to October 2014. | |
| 23493 | α-locus | Guangxi | Chinese | Carriers | 4621 | 2012 | 2014 | 26079343 | Frequencies are shown for alpha-globin gene mutations. The majority were found in a heterozygous state (~89%). Gap-polymerase chain reaction (for --SEA, -α3.7, and -α4.2) and reverse dot blot were used. The study subjects were anemic individuals examined at the Guilin Women and Children Care Hospital, Guilin, Guangxi Zhuang Autonomous Region from May 2012 to October 2014. | |
| 23494 | β-locus | Guangdong | Chinese | Carriers | 6790 | 2018 | 2019 | 34782049 | Frequencies are shown for beta-globin gene mutations. Polymerase chain reaction-reverse dot blot and DNA sequencing (for suspected rare cases) were used. The study subjects were premarital or preconception stage couples and pregnant women screened from January 2018 to December 2019. | |
| 23495 | α-locus | Guangdong | Chinese | Carriers | 8822 | 2018 | 2019 | 34782049 | Frequencies are shown for alpha-globin gene mutations, the majority found in a heterozygous state (~87%). Gap-polymerase chain reaction (for --SEA, -α3.7, and -α4.2), polymerase chain reaction-reverse dot blot and DNA sequencing (for suspected rare cases) were used. The study subjects were premarital or preconception stage couples and pregnant women screened from January 2018 to December 2019. | |
| 23496 | α-locus | Sichuan | Chinese | Carriers | 795 | 2017 | 2019 | 32719015 | Frequencies are shown for alpha-globin gene mutations and were calculated from IthaNet. Female samples with MCV <85 fL or MCH <27 pg or HbA2 >3.5% or Hb variant were collected at Sichuan Jinxin Women’s and Children’s Hospital, Chengdu, from July 2017 to July 2019, and were screened using gap-PCR and reverse dot blot analysis. | |
| 23497 | β-locus | Sichuan | Chinese | Carriers | 336 | 2017 | 2019 | 32719015 | Frequencies are shown for beta-globin gene mutations and were calculated by IthaNet. Female samples with MCV <85 fL or MCH <27 pg or HbA2 >3.5% or Hb variant were collected at Sichuan Jinxin Women’s and Children’s Hospital, Chengdu, from July 2017 to July 2019, and were screened using reverse dot blot analysis. Eight mutations -32 C>A [HBB:c.-82C>A], -30 T>C [HBB:c.-80T>C], CD 14/15 (+G) [HBB:c.45dupG], Init CD ATG>AGG [HBB:c.2T>G], IVS I-1 G>A [HBB:c.92+1G>A], IVS I-1 G>T [HBB:c.92+1G>T], CD 31 (-C) [HBB:c.94delC], IVS I-5 G>C [HBB:c.92+5G>C] were not detected. | |
| 23498 | β-locus | Guangdong | Chinese | Carriers | 6779 | 2018 | 2019 | 34474730 | Frequencies are shown for beta-globin gene mutations. Female samples with MCV <80 fL and/or MCH <27 pg were collected as part of the thalassemia prevention and control program in Guangdong from Jan. 2018 to Dec. 2019. The β-thalassemia gene detection kit (Yaneng Bioscience Co., Ltd., Shenzhen, China) was used. -30T>C [HBB:c.-80T>C] was not detected. | |
| 23499 | β-locus | Yunnan | Multi-ethnic | Carriers and Patients | 1616 | 2004 | 2014 | 25849334 | Frequencies are shown for beta-globin gene mutations. Samples were collected from five regions; Central (Kunming, Yuxi, Chuxiong), Northeast (Zhaotong, Qujing), Northwest (Dali, Lijiang, Nujiang, Shangri-La), Southwest (Baoshan, Dehong, Xishuangbanna, Lincang, Puer) and Southeast (Wenshan, Honghe). Most were carriers of β-globin gene mutations (approx. 88%) and belonged to 22 different ethnic groups, mainly Han (39.2%), Dai (36.3%) and Zhuang (8.4%). | |
| 23500 | β-locus | Yunnan | Chinese | Carriers and Patients | 740 | 2014 | 2018 | 32351918 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Samples were obtained in Kunming Children’s hospital. | |
| 23501 | α-locus | Yunnan | Chinese | Carriers and Patients | 584 | 2014 | 2018 | 32351918 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Samples were obtained in Kunming Children’s hospital. Screening of three known mutations. | |
| 23502 | α-locus | Fujian | Chinese | Carriers | 3507 | 2013 | 2019 | 31653757 | Frequencies are shown for alpha-globin gene mutations. Samples originated from the Quanzhou region and were recruited at Quanzhou Women’s and Children’s hospital. | |
| 23503 | β-locus | Fujian | Chinese | Carriers | 1498 | 2013 | 2019 | 31653757 | Frequencies are shown for beta-globin gene mutations. Samples originated from the Quanzhou region and were recruited at Quanzhou Women’s and Children’s hospital. | |
| 23504 | β-locus | Guangdong | Hakka | Carriers | 223 | 2011 | 2011 | 23383304 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. All samples originated from the Meizhou region and were collected from eight areas (Meizhou urban, Meixian, Pingyuan, Jiaoling, Dabu, Fengshun, Xingning, and Wuhua) during routine heamatological testing. | |
| 23505 | α-locus | Guangdong | Chinese | Carriers | 278 | 2011 | 2013 | 26865073 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. All samples originated from the Chaoshan region (Shantou and Chaozhou areas) and were collected from hospitals during routine health examinations. | |
| 23506 | β-locus | Guangdong | Chinese | Carriers | 53 | 2011 | 2013 | 26865073 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. All samples originated from the Chaoshan region (Shantou and Chaozhou areas) and were collected from hospitals during routine health examinations. | |
| 23507 | α-locus | Guangxi | Zhuang, Han | Carriers and Patients | 1619 | 2003 | 2008 | 21250879 | Frequencies are shown for alpha-globin gene mutations. All samples originated from the city Nanning and were collected at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital. | |
| 23508 | β-locus | Guangxi | Zhuang, Han | Carriers and Patients | 1197 | 2003 | 2008 | 21250879 | Frequencies are shown for beta-globin gene mutations. All samples originated from the city Nanning and were collected at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital. The majority were carriers exhibiting β-thalassaemia minor. | |
| 23509 | β-locus | Guangxi | Multi-ethnic | Carriers | 372 | 2007 | 2008 | 20412082 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. Samples originated from different regions of the Guangxi Zhuang Autonomous Region (i.e. Baise, Liuzhou, Hezhou, Nanning, Yulin, Fangchenggang) and were of Guangxi descent. Most belonged to the Han ethnic group (58.1%), followed by Zhang (28.8%), Yao (10.7%), and nine other local minorities, including Miao, Melao, Tong, Yi, Jing, Li, Man, Shui, and Tujia (2.4%). | |
| 23510 | α-locus | Guangxi | Multi-ethnic | Carriers | 1016 | 2007 | 2008 | 20412082 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Samples originated from different regions of the Guangxi Zhuang Autonomous Region (i.e. Baise, Liuzhou, Hezhou, Nanning, Yulin, Fangchenggang) and were of Guangxi descent. Most belonged to the Han ethnic group (58.1%), followed by Zhang (28.8%), Yao (10.7%), and nine other local minorities, including Miao, Melao, Tong, Yi, Jing, Li, Man, Shui, and Tujia (2.4%). | |
| 23511 | β-locus | Guangxi | Chinese | Carriers and Patients | 8644 | 2011 | 2016 | 29477874 | Frequencies are shown for beta-globin gene mutations. All subjects originated from the Yulin region. Samples consisted mainly of heterozygous mutations (98.5%), as well as homozygous and compound heterozygous mutations (0.76%). | |
| 23512 | α-locus | Guangxi | Chinese | Carriers and Patients | 20115 | 2011 | 2016 | 29477874 | Frequencies are shown for alpha-globin gene mutations. All subjects originated from the Yulin region. Samples consisted mainly of heterozygous mutations (89.65%), as well as homozygous and compound heterozygous mutations (10.35%). | |
| 23513 | β-locus | Fujian | Chinese | Carriers | 180 | 2013 | 2017 | 30348032 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. All subjects originated from the city of Fuzhou. | |
| 23514 | α-locus | Fujian | Chinese | Carriers and Patients | 281 | 2013 | 2017 | 30348032 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. All samples originated from the city of Fuzhou and the majority had heterozygous α0-thalassaemia. | |
| 23515 | β-locus | Hubei | Chinese | Carriers and Patients | 1195 | 2013 | 2018 | 31906886 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. The majority of subjects were carriers for beta-globin gene mutations (>1100). | |
| 23516 | α-locus | Hubei | Chinese | Carriers and Patients | 598 | 2013 | 2018 | 31906886 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. The majority of subjects had heterozygous α0-thalassaemia, followed by heterozygous α+-thalassaemia. | |
| 23517 | β-locus | Guangdong | Chinese | Patients | 80 | 1988 | 3338793 | Frequencies are shown for beta-globin gene mutations. Study samples originated from the cities of Guangzhou, Zhaoqing, Fosan, Huiyang, and Shaogun in Guangdong province. | ||
| 23518 | β-locus | Chinese | Patients | 78 | 1986 | 2875755 | Frequencies are shown for beta-globin gene mutations. Study samples were of Chinese and Southeast Asian origin acquired from South China, Kwantung province, the United States and Canada. | |||
| 23519 | β-locus | Guangxi | Chinese | Patients | 188 | 1994 | 7515267 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haematology Clinic of Guangxi Medical College. | ||
| 23520 | β-locus | Southern China | Chinese | Patients | 93 | 1987 | 2889357 | Frequencies are shown for beta-globin gene mutations. Study samples originated from various regions in Guangdong, with a few from Guangxi, Fujian, Zhejiang, and Hubei, South China. | ||
| 23521 | β-locus | Guangdong | Chinese | Carriers and Patients | 26 | 1990 | 2298448 | Frequencies are shown for beta-globin gene mutations. | ||
| 23522 | β-locus | Guangxi | Chinese | Carriers and Patients | 24 | 1990 | 2298448 | Frequencies are shown for beta-globin gene mutations. |
Organisations in China
A list of all organisations in China 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 |
|---|---|---|
| Baoan Women’s and Children’s Hospital | Medical Center | |
| Dongguan Maternal and Children Health Hospital | Prenatal Diagnostic Center | Medical Center |
| Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University | Research Center | |
| Liuzhou Maternity and Child Healthcare Hospital ( Liuzhou MCH) | Research Center, Scientific Society, Medical Center, Diagnostic Center | |
| Liuzhou People's Hospital | Department of Clinical Laboratory | Medical Center, Diagnostic Center |
| Peking University Shenzhen Hospital | Department of Laboratory Medicine | Medical Center |
| Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center | Diagnostic Center | |
| Qinzhou Maternal and Child Health Care Hospital | Medical Center | |
| Quanzhou Women’s and Children’s Hospital | Medical Center, Diagnostic Center | |
| Southern Medical University (SMU) | Department of Medical Genetics | Research Center, Higher Education |
| The People’s Hospital of Guangxi Zhuang Autonomous Region | Research Center, Medical Center |
Microattributions
No microattibutions were provided for China. 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.