Publications:

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Role of microRNA in hydroxyurea mediated HbF induction in sickle cell anaemia patients.

Scientific Reports

Kargutkar, Neha N; Sawant-Mulay, Madhavi M; Hariharan, Priya P; Chandrakala, S S; Nadkarni, Anita A

Publication Date: 2023-01-07

Variant appearance in text: rs11886868

PubMed Link: 36611033

Variant Present in the following documents:

• Main text
• 41598_2022_Article_25444.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs11886868

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Single Nucleotide Polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and Their Relation to High Fetal Hemoglobin Levels That Alleviate Anemia.

Diagnostics (Basel, Switzerland)

Mohammad, Siti Nur Nabeela A'ifah SNNA; Iberahim, Salfarina S; Wan Ab Rahman, Wan Suriana WS; Hassan, Mohd Nazri MN; Edinur, Hisham Atan HA; Azlan, Maryam M; Zulkafli, Zefarina Z

Publication Date: 2022-06-02

Variant appearance in text: rs11886868

PubMed Link: 35741184

Variant Present in the following documents:

• Main text
• diagnostics-12-01374.pdf

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Magnetic Resonance Imaging Quantification of the Liver Iron Burden and Volume Changes Following Treatment With Thalidomide in Patients With Transfusion-Dependent ß-Thalassemia.

Frontiers In Pharmacology

Che, Jinlian J; Luo, Tianying T; Huang, Lan L; Lu, Qiyang Q; Yan, Da D; Meng, Yinying Y; Xie, Jinlan J; Chen, Weihua W; Chen, Jiangming J; Long, Liling L

Publication Date: 2022

Variant appearance in text: rs11886868

PubMed Link: 35250561

Variant Present in the following documents:

• Main text
• fphar-13-810668.pdf

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Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.

Frontiers In Pharmacology

Sales, Rahyssa Rodrigues RR; Nogueira, Bárbara Lisboa BL; Tosatti, Jéssica Abdo Gonçalves JAG; Gomes, Karina Braga KB; Luizon, Marcelo Rizzatti MR

Publication Date: 2021

Variant appearance in text: rs11886868

PubMed Link: 35126118

Variant Present in the following documents:

• Main text
• fphar-12-779497.pdf

View BVdb publication page

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Safety and efficacy of thalidomide in patients with transfusion-dependent β-thalassemia: a randomized clinical trial.

Signal Transduction And Targeted Therapy

Chen, Jiang-Ming JM; Zhu, Wei-Jian WJ; Liu, Jie J; Wang, Gui-Zhen GZ; Chen, Xiao-Qin XQ; Tan, Yun Y; Xu, Wei-Wei WW; Qu, Li-Wei LW; Li, Jin-Yan JY; Yang, Huan-Ju HJ; Huang, Lan L; Cai, Ning N; Wang, Wei-Da WD; Huang, Ken K; Xu, Jian-Quan JQ; Li, Guo-Hui GH; He, Sheng S; Luo, Tian-Ying TY; Huang, Yi Y; Liu, Song-Hua SH; Wu, Wen-Qiang WQ; Lu, Qi-Yang QY; Zhou, Mei-Guang MG; Chen, Shu-Ying SY; Li, Rong-Lan RL; Hu, Mei-Ling ML; Huang, Ying Y; Wei, Jin-Hua JH; Li, Jun-Min JM; Chen, Sai-Juan SJ; Zhou, Guang-Biao GB

Publication Date: 2021-11-18

Variant appearance in text: rs11886868

PubMed Link: 34795208

Variant Present in the following documents:

• Main text

View BVdb publication page

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Safety and efficacy of thalidomide in patients with transfusion-dependent β-thalassemia: a randomized clinical trial.

Signal Transduction And Targeted Therapy

Chen, Jiang-Ming JM; Zhu, Wei-Jian WJ; Liu, Jie J; Wang, Gui-Zhen GZ; Chen, Xiao-Qin XQ; Tan, Yun Y; Xu, Wei-Wei WW; Qu, Li-Wei LW; Li, Jin-Yan JY; Yang, Huan-Ju HJ; Huang, Lan L; Cai, Ning N; Wang, Wei-Da WD; Huang, Ken K; Xu, Jian-Quan JQ; Li, Guo-Hui GH; He, Sheng S; Luo, Tian-Ying TY; Huang, Yi Y; Liu, Song-Hua SH; Wu, Wen-Qiang WQ; Lu, Qi-Yang QY; Zhou, Mei-Guang MG; Chen, Shu-Ying SY; Li, Rong-Lan RL; Hu, Mei-Ling ML; Huang, Ying Y; Wei, Jin-Hua JH; Li, Jun-Min JM; Chen, Sai-Juan SJ; Zhou, Guang-Biao GB

Publication Date: 2021-11-18

Variant appearance in text: rs11886868

PubMed Link: 34795208

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China.

Journal Of Clinical Laboratory Analysis

Wu, Heming H; Huang, Qingyan Q; Yu, Zhikang Z; Zhong, Zhixiong Z

Publication Date: 2021-12

Variant appearance in text: rs11886868

PubMed Link: 34752669

Variant Present in the following documents:

• Main text
• JCLA-35-e24105.pdf

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Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China.

Journal Of Clinical Laboratory Analysis

Wu, Heming H; Huang, Qingyan Q; Yu, Zhikang Z; Zhong, Zhixiong Z

Publication Date: 2021-12

Variant appearance in text: rs11886868

PubMed Link: 34752669

Variant Present in the following documents:

• Main text
• JCLA-35-e24105.pdf

View BVdb publication page

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Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.

Scientific Reports

Hariharan, Priya P; Gorivale, Manju M; Sawant, Pratibha P; Mehta, Pallavi P; Nadkarni, Anita A

Publication Date: 2021-10-22

Variant appearance in text: rs11886868

PubMed Link: 34686692

Variant Present in the following documents:

• Main text
• 41598_2021_Article_169.pdf

View BVdb publication page

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Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.

Archives Of Medical Science : Ams

Cyrus, Cyril C; Vatte, Chittibabu C; Chathoth, Shahanas S; Sayed, Abdul Azeez AA; Borgio, J Francis JF; Alrubaish, Mohammed Abdullah MA; Alfalah, Rawan R; Alsaikhan, Jana J; Al Ali, Amein K AK

Publication Date: 2021

Variant appearance in text: rs11886868

PubMed Link: 34336034

Variant Present in the following documents:

• Main text
• AMS-17-4-91080.pdf

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Unique Polymorphisms at BCL11A, HBS1L-MYB and HBB Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease.

Journal Of Personalized Medicine

Akbulut-Jeradi, Nagihan N; Fernandez, Maria Jinky MJ; Al Khaldi, Rasha R; Sukumaran, Jalaja J; Adekile, Adekunle A

Publication Date: 2021-06-17

Variant appearance in text: rs11886868

PubMed Link: 34204365

Variant Present in the following documents:

• Main text
• jpm-11-00567.pdf

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Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.

Biomolecules

Zakaria, Nur Atikah NA; Islam, Md Asiful MA; Abdullah, Wan Zaidah WZ; Bahar, Rosnah R; Mohamed Yusoff, Abdul Aziz AA; Abdul Wahab, Ridhwan R; Shamsuddin, Shaharum S; Johan, Muhammad Farid MF

Publication Date: 2021-05-18

Variant appearance in text: rs11886868

PubMed Link: 34070036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotypic Diversity among Angolan Children with Sickle Cell Anemia.

International Journal Of Environmental Research And Public Health

Delgadinho, Mariana M; Ginete, Catarina C; Santos, Brígida B; Miranda, Armandina A; Brito, Miguel M

Publication Date: 2021-05-19

Variant appearance in text: rs11886868

PubMed Link: 34069401

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive SNPs for β0-thalassemia/HbE disease severity.

Scientific Reports

Munkongdee, Thongperm T; Tongsima, Sissades S; Ngamphiw, Chumpol C; Wangkumhang, Pongsakorn P; Peerapittayamongkol, Chayanon C; Hashim, Hafizah Binti HB; Fucharoen, Suthat S; Svasti, Saovaros S

Publication Date: 2021-05-14

Variant appearance in text: rs11886868

PubMed Link: 33990643

Variant Present in the following documents:

• Main text

View BVdb publication page

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Surveillance for sickle cell disease, United Republic of Tanzania.

Bulletin Of The World Health Organization

Ambrose, Emmanuela E EE; Smart, Luke R LR; Charles, Mwesige M; Hernandez, Arielle G AG; Latham, Teresa T; Hokororo, Adolfine A; Beyanga, Medard M; Howard, Thad A TA; Kamugisha, Erasmus E; McElhinney, Kathryn E KE; Tebuka, Erius E; Ware, Russell E RE

Publication Date: 2020-12-01

Variant appearance in text: rs11886868

PubMed Link: 33293746

Variant Present in the following documents:

• Main text
• BLT.20.253583.pdf

View BVdb publication page

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Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.

Plos One

Barbanera, Ylenia Y; Arcioni, Francesco F; Lancioni, Hovirag H; La Starza, Roberta R; Cardinali, Irene I; Matteucci, Caterina C; Nofrini, Valeria V; Roetto, Antonella A; Piga, Antonio A; Grammatico, Paola P; Caniglia, Maurizio M; Mecucci, Cristina C; Gorello, Paolo P

Publication Date: 2020

Variant appearance in text: rs11886868

PubMed Link: 33091040

Variant Present in the following documents:

• pone.0240632.pdf

View BVdb publication page

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High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.

Bmc Pediatrics

Chamouine, Abdourahim A; Saandi, Thoueiba T; Muszlak, Mathias M; Larmaraud, Juliette J; Lambrecht, Laurent L; Poisson, Jean J; Balicchi, Julien J; Pissard, Serge S; Elenga, Narcisse N

Publication Date: 2020-06-20

Variant appearance in text: rs11886868

PubMed Link: 32563256

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2187.pdf

View BVdb publication page

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Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.

Journal Of Clinical Laboratory Analysis

Hu, Li L; Huang, Ling L; Han, Yuanyuan Y; Jin, Tingting T; Liu, Juan J; Jiang, Minmin M; Liu, Xingmei X; Li, Yuanyuan Y; Han, Wenping W; An, Bangquan B; Huang, Shengwen S

Publication Date: 2020-06

Variant appearance in text: rs11886868

PubMed Link: 32068918

Variant Present in the following documents:

• JCLA-34-e23243.pdf

View BVdb publication page

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BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases.

Bioscience Reports

Yin, Jiawei J; Xie, Xiaoli X; Ye, Yufu Y; Wang, Lijuan L; Che, Fengyuan F

Publication Date: 2019-11-29

Variant appearance in text: rs11886868

PubMed Link: 31654056

Variant Present in the following documents:

• Main text
• bsr-39-bsr20190604.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BCL11A: 386-24278G>A; rs11886868

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM5_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: rs11886868

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia.

Mediterranean Journal Of Hematology And Infectious Diseases

Phanrahan, Paramee P; Yamsri, Supawadee S; Teawtrakul, Nattiya N; Fucharoen, Goonnapa G; Sanchaisuriya, Kanokwan K; Fucharoen, Supan S

Publication Date: 2019

Variant appearance in text: rs11886868

PubMed Link: 31308914

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.

Human Mutation

Fanis, Pavlos P; Kousiappa, Ioanna I; Phylactides, Marios M; Kyrri, Andreani A; Hadjigavriel, Michael M; Christou, Soteroula S; Sitarou, Maria M; Kleanthous, Marina M

Publication Date: 2019-10

Variant appearance in text: rs11886868

PubMed Link: 31115947

Variant Present in the following documents:

• Main text
• HUMU-40-1768.pdf

View BVdb publication page

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Summary and Review of the Abstracts on Disorders of Red Cells and Erythropoiesis Presented at Haematocon 2016-2017.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion

Sharma, Prashant P

Publication Date: 2018-01

Variant appearance in text: rs11886868

PubMed Link: 29398793

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon.

British Journal Of Haematology

Wonkam, Ambroise A; Mnika, Khuthala K; Ngo Bitoungui, Valentina J VJ; Chetcha Chemegni, Bernard B; Chimusa, Emile R ER; Dandara, Collet C; Kengne, Andre P AP

Publication Date: 2018-01

Variant appearance in text: rs11886868

PubMed Link: 29205277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies.

Genomics Insights

Kuo, Kevin H M KHM

Publication Date: 2017

Variant appearance in text: rs11886868

PubMed Link: 28811740

Variant Present in the following documents:

• Main text
• 10.1177_1178631017721178.pdf

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A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.

American Journal Of Human Genetics

Chen, Diyu D; Zuo, Yangjin Y; Zhang, Xinhua X; Ye, Yuhua Y; Bao, Xiuqin X; Huang, Haiyan H; Tepakhan, Wanicha W; Wang, Lijuan L; Ju, Junyi J; Chen, Guangfu G; Zheng, Mincui M; Liu, Dun D; Huang, Shuodan S; Zong, Lu L; Li, Changgang C; Chen, Yajun Y; Zheng, Chenguang C; Shi, Lihong L; Zhao, Quan Q; Wu, Qiang Q; Fucharoen, Supan S; Zhao, Cunyou C; Xu, Xiangmin X

Publication Date: 2017-07-06

Variant appearance in text: rs11886868

PubMed Link: 28669403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.

Journal Of Clinical Laboratory Analysis

Mikobi, Tite Minga TM; Tshilobo Lukusa, Prosper P; Aloni, Michel Ntetani MN; Lumaka, Aimé Zola AZ; Kaba, Didine Kinkodi DK; Devriendt, Koenraad K; Matthijs, Gert G; Mbuyi Muamba, Jean Marie JM; Race, Valérie V

Publication Date: 2018-01

Variant appearance in text: rs11886868

PubMed Link: 28332727

Variant Present in the following documents:

• Main text

View BVdb publication page

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Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.

Biomed Research International

Cyrus, Cyril C; Vatte, Chittibabu C; Borgio, J Francis JF; Al-Rubaish, Abdullah A; Chathoth, Shahanas S; Nasserullah, Zaki A ZA; Jarrash, Sana Al SA; Sulaiman, Ahmed A; Qutub, Hatem H; Alsaleem, Hassan H; Alzahrani, Alhusain J AJ; Steinberg, Martin H MH; Ali, Amein K Al AK

Publication Date: 2017

Variant appearance in text: rs11886868

PubMed Link: 28280727

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms and plasma levels of BCL11A contribute to the development of laryngeal squamous cell carcinoma.

Plos One

Zhou, Jian J; Yang, Yue Y; Zhang, Duo D; Zhou, Liang L; Tao, Lei L; Lu, Li-Ming LM

Publication Date: 2017

Variant appearance in text: rs11886868

PubMed Link: 28225775

Variant Present in the following documents:

• Main text

View BVdb publication page

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Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures.

Hematology Reports

Sclafani, Serena S; Pecoraro, Alice A; Agrigento, Veronica V; Troia, Antonio A; Di Maggio, Rosario R; Sacco, Massimiliano M; Maggio, Aurelio A; D'Alcamo, Elena E; Di Marzo, Rosalba R

Publication Date: 2016-11-02

Variant appearance in text: rs11886868

PubMed Link: 28053695

Variant Present in the following documents:

• Main text
• hr-2016-4-6678.pdf

View BVdb publication page

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The role of BCL11A and HMIP-2 polymorphisms on endogenous and hydroxyurea induced levels of fetal hemoglobin in sickle cell anemia patients from southern Brazil.

Blood Cells, Molecules & Diseases

Friedrisch, João Ricardo JR; Sheehan, Vivien V; Flanagan, Jonathan M JM; Baldan, Alessandro A; Summarell, Carly C Ginter CC; Bittar, Christina Matzembacher CM; Friedrisch, Bruno Kras BK; Wilke, Ianaê Indiara II; Ribeiro, Camila Blos CB; Daudt, Liane Esteves LE; da Rocha Silla, Lucia Mariano LM

Publication Date: 2016-11

Variant appearance in text: rs11886868

PubMed Link: 27838552

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of BCL11A genetic variant (rs11886868) with severity in β-thalassaemia major & sickle cell anaemia.

The Indian Journal Of Medical Research

Dadheech, Sneha S; Madhulatha, D D; Jainc, Suman S; Joseph, James J; Jyothy, A A; Munshi, Anjana A

Publication Date: 2016-04

Variant appearance in text: rs11886868

PubMed Link: 27377501

Variant Present in the following documents:

• Main text
• IJMR-143-449.pdf

View BVdb publication page

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Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.

Experimental Biology And Medicine (Maywood, N.J.)

Liu, Li L; Pertsemlidis, Alexander A; Ding, Liang-Hao LH; Story, Michael D MD; Steinberg, Martin H MH; Sebastiani, Paola P; Hoppe, Carolyn C; Ballas, Samir K SK; Pace, Betty S BS

Publication Date: 2016-04

Variant appearance in text: rs11886868

PubMed Link: 27022141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions.

Omics : A Journal Of Integrative Biology

Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Chetcha Chemegni, Bernard B; Kengne, Andre Pascal AP; Antonarakis, Stylianos S; Wonkam, Ambroise A

Publication Date: 2015-10

Variant appearance in text: rs11886868

PubMed Link: 26393293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients.

Cardiovascular Journal Of Africa

Wonkam, Ambroise A; Makani, Julie J; Ofori-Aquah, Solomon S; Nnodu, Obiageli E OE; Treadwell, Marsha M; Royal, Charmaine C; Ohene-Frempong, Kwaku K; ,

Publication Date: 2015

Variant appearance in text: rs11886868

PubMed Link: 25962948

Variant Present in the following documents:

• Main text
• cvja-26-50.pdf

View BVdb publication page

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Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

European Journal Of Human Genetics : Ejhg

Huang, Jiwei J; Zhang, Xinhua X; Liu, Dun D; Wei, Xiaofeng X; Shang, Xuan X; Xiong, Fu F; Yu, Lihua L; Yin, Xiaolin X; Xu, Xiangmin X

Publication Date: 2015-10

Variant appearance in text: rs11886868

PubMed Link: 25585695

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

Plos One

Mtatiro, Siana Nkya SN; Singh, Tarjinder T; Rooks, Helen H; Mgaya, Josephine J; Mariki, Harvest H; Soka, Deogratius D; Mmbando, Bruno B; Msaki, Evarist E; Kolder, Iris I; Thein, Swee Lay SL; Menzel, Stephan S; Cox, Sharon E SE; Makani, Julie J; Barrett, Jeffrey C JC

Publication Date: 2014

Variant appearance in text: rs11886868

PubMed Link: 25372704

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.

Plos One

Sheehan, Vivien A VA; Crosby, Jacy R JR; Sabo, Aniko A; Mortier, Nicole A NA; Howard, Thad A TA; Muzny, Donna M DM; Dugan-Perez, Shannon S; Aygun, Banu B; Nottage, Kerri A KA; Boerwinkle, Eric E; Gibbs, Richard A RA; Ware, Russell E RE; Flanagan, Jonathan M JM

Publication Date: 2014

Variant appearance in text: rs11886868

PubMed Link: 25360671

Variant Present in the following documents:

• Main text
• pone.0110740.pdf

View BVdb publication page

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Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania.

American Journal Of Hematology

Mtatiro, Siana Nkya SN; Makani, Julie J; Mmbando, Bruno B; Thein, Swee Lay SL; Menzel, Stephan S; Cox, Sharon E SE

Publication Date: 2015-01

Variant appearance in text: rs11886868

PubMed Link: 25263325

Variant Present in the following documents:

• Main text

View BVdb publication page

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The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival.

Plos One

Rumaney, Maryam Bibi MB; Ngo Bitoungui, Valentina Josiane VJ; Vorster, Anna Alvera AA; Ramesar, Raj R; Kengne, Andre Pascal AP; Ngogang, Jeanne J; Wonkam, Ambroise A

Publication Date: 2014

Variant appearance in text: rs11886868

PubMed Link: 24978191

Variant Present in the following documents:

• Main text
• pone.0100516.pdf

View BVdb publication page

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KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Blood

Liu, Dun D; Zhang, Xinhua X; Yu, Lihua L; Cai, Ren R; Ma, Xiaoxia X; Zheng, Chengguang C; Zhou, Yuqiu Y; Liu, Qiji Q; Wei, Xiaofeng X; Lin, Li L; Yan, Tizhen T; Huang, Jiwei J; Mohandas, Narla N; An, Xiuli X; Xu, Xiangmin X

Publication Date: 2014-07-31

Variant appearance in text: rs11886868

PubMed Link: 24829204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon.

Plos One

Wonkam, Ambroise A; Ngo Bitoungui, Valentina J VJ; Vorster, Anna A AA; Ramesar, Raj R; Cooper, Richard S RS; Tayo, Bamidele B; Lettre, Guillaume G; Ngogang, Jeanne J

Publication Date: 2014

Variant appearance in text: rs11886868

PubMed Link: 24667352

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.

Bmc Genomics

Fanis, Pavlos P; Kousiappa, Ioanna I; Phylactides, Marios M; Kleanthous, Marina M

Publication Date: 2014-02-06

Variant appearance in text: rs11886868

PubMed Link: 24502199

Variant Present in the following documents:

• Main text
• 1471-2164-15-108.pdf

View BVdb publication page

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A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

American Journal Of Hematology

Belfer, Inna I; Youngblood, Victoria V; Darbari, Deepika S DS; Wang, Zhengyuan Z; Diaw, Lena L; Freeman, Lita L; Desai, Krupa K; Dizon, Michael M; Allen, Darlene D; Cunnington, Colin C; Channon, Keith M KM; Milton, Jacqueline J; Hartley, Stephen W SW; Nolan, Vikki V; Kato, Gregory J GJ; Steinberg, Martin H MH; Goldman, David D; Taylor, James G JG

Publication Date: 2014-02

Variant appearance in text: rs11886868

PubMed Link: 24136375

Variant Present in the following documents:

• Main text

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South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF.

Haematologica

De Angioletti, Maria M; Sabato, Vincenzo V; Musollino, Gennaro G; Prezioso, Romeo R; Carestia, Clementina C; Lacerra, Giuseppina G

Publication Date: 2013-08

Variant appearance in text: rs11886868

PubMed Link: 23812938

Variant Present in the following documents:

• Main text

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Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

British Journal Of Haematology

Alter, Blanche P BP; Rosenberg, Philip S PS; Day, Thomas T; Menzel, Stephan S; Giri, Neelam N; Savage, Sharon A SA; Thein, Swee Lay SL

Publication Date: 2013-08

Variant appearance in text: rs11886868

PubMed Link: 23713742

Variant Present in the following documents:

• Main text

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Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.

Blood Cells, Molecules & Diseases

Ngo, Duyen D; Bae, Harold H; Steinberg, Martin H MH; Sebastiani, Paola P; Solovieff, Nadia N; Baldwin, Clinton T CT; Melista, Efthymia E; Safaya, Surinder S; Farrer, Lindsay A LA; Al-Suliman, Ahmed M AM; Albuali, Waleed H WH; Al Bagshi, Muneer H MH; Naserullah, Zaki Z; Akinsheye, Idowu I; Gallagher, Patrick P; Luo, Hong-yuan HY; Chui, David H K DH; Farrell, John J JJ; Al-Ali, Amein K AK; Alsultan, Abdulrahman A

Publication Date: 2013-06

Variant appearance in text: rs11886868

PubMed Link: 23465615

Variant Present in the following documents:

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Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea.

Plos One

Green, Nancy S NS; Ender, Katherine L KL; Pashankar, Farzana F; Driscoll, Catherine C; Giardina, Patricia J PJ; Mullen, Craig A CA; Clark, Lorraine N LN; Manwani, Deepa D; Crotty, Jennifer J; Kisselev, Sergey S; Neville, Kathleen A KA; Hoppe, Carolyn C; Barral, Sandra S

Publication Date: 2013

Variant appearance in text: rs11886868

PubMed Link: 23409025

Variant Present in the following documents:

• Main text
• pone.0055709.pdf

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Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.

Haematologica

Ghedira, Elyes Slim ES; Lecerf, Laure L; Faubert, Emmanuelle E; Costes, Bruno B; Moradkhani, Kamran K; Bachir, Dora D; Galactéros, Frédéric F; Pissard, Serge S

Publication Date: 2013-02

Variant appearance in text: rs11886868

PubMed Link: 22801970

Variant Present in the following documents:

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Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.

Haematologica

Danjou, Fabrice F; Anni, Franco F; Perseu, Lucia L; Satta, Stefania S; Dessì, Carlo C; Lai, Maria Eliana ME; Fortina, Paolo P; Devoto, Marcella M; Galanello, Renzo R

Publication Date: 2012-07

Variant appearance in text: rs11886868

PubMed Link: 22271886

Variant Present in the following documents:

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Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans.

American Journal Of Hematology

Akinsheye, Idowu I; Solovieff, Nadia N; Ngo, Duyen D; Malek, Anita A; Sebastiani, Paola P; Steinberg, Martin H MH; Chui, David H K DH

Publication Date: 2012-02

Variant appearance in text: rs11886868

PubMed Link: 22139998

Variant Present in the following documents:

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Beta-thalassemia: from genotype to phenotype.

Haematologica

Danjou, Fabrice F; Anni, Franco F; Galanello, Renzo R

Publication Date: 2011-11

Variant appearance in text: rs11886868

PubMed Link: 22058279

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Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia.

Blood

Ware, Russell E RE; Despotovic, Jenny M JM; Mortier, Nicole A NA; Flanagan, Jonathan M JM; He, Jin J; Smeltzer, Matthew P MP; Kimble, Amy C AC; Aygun, Banu B; Wu, Song S; Howard, Thad T; Sparreboom, Alex A

Publication Date: 2011-11-03

Variant appearance in text: rs11886868

PubMed Link: 21876119

Variant Present in the following documents:

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