Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Boston Children's Hospital
Boston, United States
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Boston, United States
St. Jude Children's Research Hospital
Memphis, United States
Inserm
Paris, France
Broad Institute
Cambridge, United States
Dana-Farber Cancer Institute
Boston, United States
University of California, Los Angeles
Los Angeles, United States
Stanford University
Stanford, United States
Harvard University
Cambridge, United States
National Institutes of Health
Bethesda, United States
References
References (30)
- 1
Fetal hemoglobin and hemolysis markers in sickle cell anemia.
Colella MP, Traina F
Revista brasileira de hematologia e hemoterapia 2015; (37(3)):148-9.
PMID: 26041414 - 2
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.
Li J, Dai H, Feng Y, et al.
The Journal of molecular diagnostics : JMD 2015; (17(5)):545-53.
PMID: 26320870 - 3
Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India.
Patel S, Dehury S, Purohit P, et al.
Journal of clinical and diagnostic research : JCDR 2015; (9(9)):OD09-10 doi:10.7860/JCDR/2015/12878.6548.
PMID: 26500940 - 4
The Natural History of Hb S/Hereditary Persistence of Fetal Hemoglobin in 13 Children from the State of Minas Gerais, Brazil.
Belisário AR, Sales RR, Silva CM, et al.
Hemoglobin 2016; (40(3)):215-9 doi:10.3109/03630269.2016.1149076.
PMID: 27117574 - 5
Sickle cell disease severity: an introduction.
Pace BS, Goodman SR
Experimental biology and medicine (Maywood, N.J.) 2016; (241(7)):677-8 doi:10.1177/1535370216641880.
PMID: 27190296 - 6
A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin.
Serjeant GR, Serjeant BE, Hambleton IR, et al.
Hemoglobin 2017; (41(3)):216-217 doi:10.1080/03630269.2017.1360336.
PMID: 28870138 - 7
Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin.
Shaukat I, Pudal A, Yassin S, et al.
Journal of community hospital internal medicine perspectives 2018; (8(6)):380-381 doi:10.1080/20009666.2018.1536241.
PMID: 30559951 - 8
Clinical variability and molecular characterization of Hbs/Gγ (Aγδβ)0-thal and Hbs/HPFH in Indian sickle cell disease patients: AIIMS experience.
Pandey H, Singh K, Ranjan R, et al.
Hematology (Amsterdam, Netherlands) 2019; (24(1)):349-352 doi:10.1080/16078454.2019.1579985.
PMID: 30777489 - 9
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.
Mochizuki T, Teraoka A, Akagawa H, et al.
Clinical and experimental nephrology 2019; (23(8)):1022-1030 doi:10.1007/s10157-019-01736-3.
PMID: 30989420 - 10
Inhibition of LSD1 by small molecule inhibitors stimulates fetal hemoglobin synthesis.
Le CQ, Myers G, Habara A, et al.
Blood 2019; (133(22)):2455-2459 doi:10.1182/blood.2018892737.
PMID: 30992270 - 11
Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.
Concolino P, Capoluongo E
Expert review of molecular diagnostics 2019; (19(9)):795-802 doi:10.1080/14737159.2019.1657011.
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Cholelithiasis in patients with paediatric sickle cell anaemia in a Saudi hospital.
Alhawsawi ZM, Alshenqeti AM, Alqarafi AM, et al.
Journal of Taibah University Medical Sciences 2019; (14(2)):187-192 doi:10.1016/j.jtumed.2019.02.007.
PMID: 31435409 - 13
Allosteric control of hemoglobin S fiber formation by oxygen and its relation to the pathophysiology of sickle cell disease.
Henry ER, Cellmer T, Dunkelberger EB, et al.
Proceedings of the National Academy of Sciences of the United States of America 2020; (117(26)):15018-15027 doi:10.1073/pnas.1922004117.
PMID: 32527859 - 14
Fetal hemoglobin rescues ineffective erythropoiesis in sickle cell disease.
El Hoss S, Cochet S, Godard A, et al.
Haematologica 2021; (106(10)):2707-2719 doi:10.3324/haematol.2020.265462.
PMID: 32855279 - 15
Genetic research and clinical analysis of deletional Chinese Gγ+(Aγδβ)0 -thalassemia and Southeast Asian HPFH in South China.
Wu Y, Yao Q, Zhong M, et al.
Annals of hematology 2020; (99(12)):2747-2753 doi:10.1007/s00277-020-04252-7.
PMID: 32930850 - 16
Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes.
Steinberg MH
Journal of clinical medicine 2020; (9(11)) doi:10.3390/jcm9113782.
PMID: 33238542 - 17
Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease.
Esrick EB, Lehmann LE, Biffi A, et al.
The New England journal of medicine 2021; (384(3)):205-215 doi:10.1056/NEJMoa2029392.
PMID: 33283990 - 18
CRISPR/Cas9 gene editing for curing sickle cell disease.
Park SH, Bao G
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2021; (60(1)):103060 doi:10.1016/j.transci.2021.103060.
PMID: 33455878 - 19
Heterogeneity of fetal hemoglobin production in adult red blood cells.
Khandros E, Blobel GA
Current opinion in hematology 2021; (28(3)):164-170 doi:10.1097/MOH.0000000000000640.
PMID: 33631783 - 20
Sickle Cell Disease in Jordan: The Experience of a Major Referral Center.
Oudat RI, Abualruz HS, Al-Shiek NKA, et al.
Medical archives (Sarajevo, Bosnia and Herzegovina) 2021; (75(1)):27-30 doi:10.5455/medarh.2021.75.27-30.
PMID: 34012195 - 21
Early initiation of hydroxyurea (hydroxycarbamide) using individualised, pharmacokinetics-guided dosing can produce sustained and nearly pancellular expression of fetal haemoglobin in children with sickle cell anaemia.
Quinn CT, Niss O, Dong M, et al.
British journal of haematology 2021; (194(3)):617-625 doi:10.1111/bjh.17663.
PMID: 34227124 - 22
β-Hemoglobinopathies: The Test Bench for Genome Editing-Based Therapeutic Strategies.
Barbarani G, Łabedz A, Ronchi AE
Frontiers in genome editing 2020; (2()):571239 doi:10.3389/fgeed.2020.571239.
PMID: 34713219 - 23
Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Sickle Cell Anemia.
Shook LM, Haygood D, Quinn CT
Frontiers in medicine 2021; (8()):734305 doi:10.3389/fmed.2021.734305.
PMID: 34859003 - 24
Retained Splenic Function in an Indian Population with Homozygous Sickle Cell Disease May Have Important Clinical Significance.
Serjeant B, Hambleton I, Serjeant G
Indian journal of community medicine : official publication of Indian Association of Preventive & Social Medicine 2021; (46(4)):715-718 doi:10.4103/ijcm.IJCM_1054_20.
PMID: 35068741 - 25
Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.
Serjeant GR
Expert review of hematology 2022; (15(2)):107-116 doi:10.1080/17474086.2022.2040984.
PMID: 35143361 - 26
An integrated therapeutic approach to sickle cell disease management beyond infancy.
Ribeil JA, Pollock G, Frangoul H, Steinberg MH
American journal of hematology 2023; (98(7)):1087-1096 doi:10.1002/ajh.26956.
PMID: 37170801 - 27
The beta thalassaemia trait in Jamaica.
Serjeant GR, Serjeant BE, Mason KP, et al.
Journal of community genetics 2023; (14(4)):355-360 doi:10.1007/s12687-023-00657-9.
PMID: 37391652 - 28
F-erythrocytes promote Plasmodium falciparum proliferation in sickle cell disease.
Archer NM, Gnangnon B, Mikdar M, et al.
American journal of hematology 2023; (98(10)):1598-1605 doi:10.1002/ajh.27042.
PMID: 37584425 - 29
A Rare Case of Multiple Bone Infarctions and Abnormal Pulmonary Function Tests in a Patient With Compound Heterozygous Hemoglobin S and Type 2 Hereditary Persistence of Fetal Hemoglobin.
Alnaqbi KA
Cureus 2024; (16(8)):e66395 doi:10.7759/cureus.66395.
PMID: 39113817 - 30
Molecular Characterization of Three Novel Large Deletions Causing α0-Thalassemia.
Ferrer-Benito S, Ricard Andrés MP, Murúzabal MJ, et al.
International journal of molecular sciences 2025; (26(18)) doi:10.3390/ijms26188783.
PMID: 41009357