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
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
Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.
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
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
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
Genetic Ancestry Markers and Difference in A1c Between African American and White in the Diabetes Prevention Program.
The Journal Of Clinical Endocrinology And Metabolism
Hivert, Marie-France MF; Christophi, Costas A CA; Jablonski, Kathleen A KA; Edelstein, Sharon L SL; Kahn, Steven E SE; Golden, Sherita Hill SH; Dagogo-Jack, Samuel S; Mather, Kieren J KJ; Luchsinger, José A JA; Caballero, A Enrique AE; Barrett-Connor, Elizabeth E; Knowler, William C WC; Florez, Jose C JC; Herman, William H WH
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
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
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
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
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
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Nature Genetics
Danjou, Fabrice F; Zoledziewska, Magdalena M; Sidore, Carlo C; Steri, Maristella M; Busonero, Fabio F; Maschio, Andrea A; Mulas, Antonella A; Perseu, Lucia L; Barella, Susanna S; Porcu, Eleonora E; Pistis, Giorgio G; Pitzalis, Maristella M; Pala, Mauro M; Menzel, Stephan S; Metrustry, Sarah S; Spector, Timothy D TD; Leoni, Lidia L; Angius, Andrea A; Uda, Manuela M; Moi, Paolo P; Thein, Swee Lay SL; Galanello, Renzo R; Abecasis, Gonçalo R GR; Schlessinger, David D; Sanna, Serena S; Cucca, Francesco F
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
The Journal Of Clinical Investigation
Basak, Anindita A; Hancarova, Miroslava M; Ulirsch, Jacob C JC; Balci, Tugce B TB; Trkova, Marie M; Pelisek, Michal M; Vlckova, Marketa M; Muzikova, Katerina K; Cermak, Jaroslav J; Trka, Jan J; Dyment, David A DA; Orkin, Stuart H SH; Daly, Mark J MJ; Sedlacek, Zdenek Z; Sankaran, Vijay G VG
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.
Blood Cells, Molecules & Diseases
Sebastiani, P P; Farrell, J J JJ; Alsultan, A A; Wang, S S; Edward, H L HL; Shappell, H H; Bae, H H; Milton, J N JN; Baldwin, C T CT; Al-Rubaish, A M AM; Naserullah, Z Z; Al-Muhanna, F F; Alsuliman, A A; Patra, P K PK; Farrer, L A LA; Ngo, D D; Vathipadiekal, V V; Chui, D H K DH; Al-Ali, A K AK; Steinberg, M H MH
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
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
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
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
The XmnI polymorphic site 5' to the gene G(γ) in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical features.
Archives Of Medical Science : Ams
Belini Júnior, Edis E; Cançado, Rodolfo D RD; Domingos, Claudia R B CR
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
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