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Hemoglobin E

MedGen UID:
855024
•Concept ID:
C3889325
•
Finding
Synonym: HEMOGLOBIN E
 
OMIM®: 141900

Professional guidelines

PubMed

Clinical Classification, Screening, and Diagnosis in Beta-Thalassemia and Hemoglobin E/Beta-Thalassemia.
Pines M, Sheth S
Hematol Oncol Clin North Am 2023 Apr;37(2):313-325. doi: 10.1016/j.hoc.2022.12.003. PMID: 36907605
Clinical Classification, Screening and Diagnosis for Thalassemia.
Viprakasit V, Ekwattanakit S
Hematol Oncol Clin North Am 2018 Apr;32(2):193-211. doi: 10.1016/j.hoc.2017.11.006. PMID: 29458726
α-Globin as a molecular target in the treatment of β-thalassemia.
Mettananda S, Gibbons RJ, Higgs DR
Blood 2015 Jun 11;125(24):3694-701. Epub 2015 Apr 13 doi: 10.1182/blood-2015-03-633594. PMID: 25869286Free PMC Article

Recent clinical studies

Etiology

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Non-Transfusion-Dependent Thalassemia: A Panoramic Review.
Shash H
Medicina (Kaunas) 2022 Oct 21;58(10) doi: 10.3390/medicina58101496. PMID: 36295656Free PMC Article
Predictive SNPs for β(0)-thalassemia/HbE disease severity.
Munkongdee T, Tongsima S, Ngamphiw C, Wangkumhang P, Peerapittayamongkol C, Hashim HB, Fucharoen S, Svasti S
Sci Rep 2021 May 14;11(1):10352. doi: 10.1038/s41598-021-89641-2. PMID: 33990643Free PMC Article
Artemisinin Therapy for Malaria in Hemoglobinopathies: A Systematic Review.
Sugiarto SR, Moore BR, Makani J, Davis TME
Clin Infect Dis 2018 Feb 10;66(5):799-804. doi: 10.1093/cid/cix785. PMID: 29370347Free PMC Article
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article

Diagnosis

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Predictive SNPs for β(0)-thalassemia/HbE disease severity.
Munkongdee T, Tongsima S, Ngamphiw C, Wangkumhang P, Peerapittayamongkol C, Hashim HB, Fucharoen S, Svasti S
Sci Rep 2021 May 14;11(1):10352. doi: 10.1038/s41598-021-89641-2. PMID: 33990643Free PMC Article
Clinical Classification, Screening and Diagnosis for Thalassemia.
Viprakasit V, Ekwattanakit S
Hematol Oncol Clin North Am 2018 Apr;32(2):193-211. doi: 10.1016/j.hoc.2017.11.006. PMID: 29458726
Non-transfusion-dependent thalassemias.
Musallam KM, Rivella S, Vichinsky E, Rachmilewitz EA
Haematologica 2013 Jun;98(6):833-44. doi: 10.3324/haematol.2012.066845. PMID: 23729725Free PMC Article
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article

Therapy

Non-Transfusion-Dependent Thalassemia: A Panoramic Review.
Shash H
Medicina (Kaunas) 2022 Oct 21;58(10) doi: 10.3390/medicina58101496. PMID: 36295656Free PMC Article
Luspatercept for the treatment of anaemia in non-transfusion-dependent β-thalassaemia (BEYOND): a phase 2, randomised, double-blind, multicentre, placebo-controlled trial.
Taher AT, Cappellini MD, Kattamis A, Voskaridou E, Perrotta S, Piga AG, Filosa A, Porter JB, Coates TD, Forni GL, Thompson AA, Tartaglione I, Musallam KM, Backstrom JT, Esposito O, Giuseppi AC, Kuo WL, Miteva D, Lord-Bessen J, Yucel A, Zinger T, Shetty JK, Viprakasit V; BEYOND Investigators
Lancet Haematol 2022 Oct;9(10):e733-e744. Epub 2022 Aug 22 doi: 10.1016/S2352-3026(22)00208-3. PMID: 36007538
Pathophysiology and Clinical Manifestations of the β-Thalassemias.
Nienhuis AW, Nathan DG
Cold Spring Harb Perspect Med 2012 Dec 1;2(12):a011726. doi: 10.1101/cshperspect.a011726. PMID: 23209183Free PMC Article
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article
Pathophysiology of thalassemia.
Schrier SL
Curr Opin Hematol 2002 Mar;9(2):123-6. doi: 10.1097/00062752-200203000-00007. PMID: 11844995

Prognosis

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Direct correction of haemoglobin E β-thalassaemia using base editors.
Badat M, Ejaz A, Hua P, Rice S, Zhang W, Hentges LD, Fisher CA, Denny N, Schwessinger R, Yasara N, Roy NBA, Issa F, Roy A, Telfer P, Hughes J, Mettananda S, Higgs DR, Davies JOJ
Nat Commun 2023 Apr 19;14(1):2238. doi: 10.1038/s41467-023-37604-8. PMID: 37076455Free PMC Article
Predictive SNPs for β(0)-thalassemia/HbE disease severity.
Munkongdee T, Tongsima S, Ngamphiw C, Wangkumhang P, Peerapittayamongkol C, Hashim HB, Fucharoen S, Svasti S
Sci Rep 2021 May 14;11(1):10352. doi: 10.1038/s41598-021-89641-2. PMID: 33990643Free PMC Article
Fetal hemoglobin regulation in β-thalassemia: heterogeneity, modifiers and therapeutic approaches.
Sripichai O, Fucharoen S
Expert Rev Hematol 2016 Dec;9(12):1129-1137. Epub 2016 Nov 16 doi: 10.1080/17474086.2016.1255142. PMID: 27801605
Hemoglobin e syndromes.
Vichinsky E
Hematology Am Soc Hematol Educ Program 2007:79-83. doi: 10.1182/asheducation-2007.1.79. PMID: 18024613

Clinical prediction guides

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Direct correction of haemoglobin E β-thalassaemia using base editors.
Badat M, Ejaz A, Hua P, Rice S, Zhang W, Hentges LD, Fisher CA, Denny N, Schwessinger R, Yasara N, Roy NBA, Issa F, Roy A, Telfer P, Hughes J, Mettananda S, Higgs DR, Davies JOJ
Nat Commun 2023 Apr 19;14(1):2238. doi: 10.1038/s41467-023-37604-8. PMID: 37076455Free PMC Article
Hemoglobin E-beta-thalassemia: Progress report from the International Study Group.
Premawardhena A, De Silver S, Arambepola M, Olivieri NF, Vichinsky EP, Merson L, Muraco G, Allen A, Fisher C, Peto T, Weatherall DJ
Ann N Y Acad Sci 2005;1054:33-9. doi: 10.1196/annals.1345.005. PMID: 16339649
Thalassemia in Sri Lanka: a progress report.
Premawardhena A, De Silva S, Arambepola M, Olivieri N, Merson L, Muraco J, Allen A, Fisher C, Peto T, Vichinsky E, Weatherall D
Hum Mol Genet 2004 Oct 1;13 Spec No 2:R203-6. doi: 10.1093/hmg/ddh250. PMID: 15358726
Pathophysiology of thalassemia.
Schrier SL
Curr Opin Hematol 2002 Mar;9(2):123-6. doi: 10.1097/00062752-200203000-00007. PMID: 11844995

Recent systematic reviews

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Artemisinin Therapy for Malaria in Hemoglobinopathies: A Systematic Review.
Sugiarto SR, Moore BR, Makani J, Davis TME
Clin Infect Dis 2018 Feb 10;66(5):799-804. doi: 10.1093/cid/cix785. PMID: 29370347Free PMC Article
Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis.
Algiraigri AH, Kassam A
Int J Hematol 2017 Dec;106(6):748-756. Epub 2017 Aug 7 doi: 10.1007/s12185-017-2307-0. PMID: 28786080
Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.
Algiraigri AH, Wright NAM, Paolucci EO, Kassam A
Hematol Oncol Stem Cell Ther 2017 Sep;10(3):116-125. Epub 2017 Apr 6 doi: 10.1016/j.hemonc.2017.02.002. PMID: 28408107
Total Antioxidant Capacity in beta-thalassemia: A systematic review and meta-analysis of case-control studies.
Manafikhi H, Drummen G, Palmery M, Peluso I
Crit Rev Oncol Hematol 2017 Feb;110:35-42. Epub 2016 Dec 8 doi: 10.1016/j.critrevonc.2016.12.007. PMID: 28109403

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