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Alpha-thalassemia and related diseases

MedGen UID:
1843145
Concept ID:
C5680751
Disease or Syndrome
Synonym: Alpha-thalassemia and related disorders
 
Orphanet: ORPHA275745

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-thalassemia and related diseases

Professional guidelines

PubMed

Suali L, Mohammad Salih FA, Ibrahim MY, Jeffree MSB, Thomas FM, Siew Moy F, Shook Fe Y, Suali E, Sudi S, Sunggip C
Hemoglobin 2022 Nov;46(6):317-324. Epub 2023 Feb 23 doi: 10.1080/03630269.2023.2169154. PMID: 36815306
Fucharoen S, Weatherall DJ
Hematol Oncol Clin North Am 2016 Apr;30(2):359-71. doi: 10.1016/j.hoc.2015.12.001. PMID: 27040959
Wick W, Wiestler B, Platten M
Cancer Treat Res 2015;163:89-101. doi: 10.1007/978-3-319-12048-5_6. PMID: 25468227

Recent clinical studies

Etiology

de Winter DP, Kaminski A, Tjoa ML, Oepkes D
BMC Pregnancy Childbirth 2023 Jan 7;23(1):12. doi: 10.1186/s12884-022-05329-z. PMID: 36611144Free PMC Article
Iolascon A, Andolfo I, Russo R
Blood 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750
Kariuki SN, Williams TN
Hum Genet 2020 Jun;139(6-7):801-811. Epub 2020 Mar 4 doi: 10.1007/s00439-020-02142-6. PMID: 32130487Free PMC Article
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328
Steinberg MH
ScientificWorldJournal 2008 Dec 25;8:1295-324. doi: 10.1100/tsw.2008.157. PMID: 19112541Free PMC Article

Diagnosis

Rana S, Burke SD, Karumanchi SA
Am J Obstet Gynecol 2022 Feb;226(2S):S1019-S1034. Epub 2020 Oct 20 doi: 10.1016/j.ajog.2020.10.022. PMID: 33096092Free PMC Article
Iolascon A, Andolfo I, Russo R
Blood 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750
Farashi S, Harteveld CL
Blood Cells Mol Dis 2018 May;70:43-53. Epub 2017 Sep 21 doi: 10.1016/j.bcmd.2017.09.004. PMID: 29032940
Origa R
Genet Med 2017 Jun;19(6):609-619. Epub 2016 Nov 3 doi: 10.1038/gim.2016.173. PMID: 27811859
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Therapy

Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article
Lee YC, Yen CT, Lee YL, Chen RJ
Int J Mol Sci 2022 Sep 5;23(17) doi: 10.3390/ijms231710189. PMID: 36077584Free PMC Article
Cappellini MD, Motta I
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):278-283. doi: 10.1182/asheducation-2017.1.278. PMID: 29222267Free PMC Article
Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E
Hematology Am Soc Hematol Educ Program 2004:14-34. doi: 10.1182/asheducation-2004.1.14. PMID: 15561674
Rodgers GP
Baillieres Clin Haematol 1998 Mar;11(1):239-55. doi: 10.1016/s0950-3536(98)80077-2. PMID: 10872480

Prognosis

Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article
Rana S, Burke SD, Karumanchi SA
Am J Obstet Gynecol 2022 Feb;226(2S):S1019-S1034. Epub 2020 Oct 20 doi: 10.1016/j.ajog.2020.10.022. PMID: 33096092Free PMC Article
Wang F, Ling L, Yu D
Am J Med Sci 2021 Jul;362(1):5-12. Epub 2021 Feb 16 doi: 10.1016/j.amjms.2021.02.011. PMID: 33600783
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Goonasekera HW, Paththinige CS, Dissanayake VHW
Annu Rev Genomics Hum Genet 2018 Aug 31;19:355-380. Epub 2018 May 11 doi: 10.1146/annurev-genom-091416-035451. PMID: 29751732

Clinical prediction guides

Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article
de Winter DP, Kaminski A, Tjoa ML, Oepkes D
BMC Pregnancy Childbirth 2023 Jan 7;23(1):12. doi: 10.1186/s12884-022-05329-z. PMID: 36611144Free PMC Article
Rana S, Burke SD, Karumanchi SA
Am J Obstet Gynecol 2022 Feb;226(2S):S1019-S1034. Epub 2020 Oct 20 doi: 10.1016/j.ajog.2020.10.022. PMID: 33096092Free PMC Article
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697

Recent systematic reviews

Makhamreh MM, Shivashankar K, Araji S, Critchlow E, O'Brien BM, Wodoslawsky S, Berger SI, Al-Kouatly HB
Am J Med Genet A 2024 May;194(5):e63494. Epub 2023 Dec 29 doi: 10.1002/ajmg.a.63494. PMID: 38156365
de Winter DP, Kaminski A, Tjoa ML, Oepkes D
BMC Pregnancy Childbirth 2023 Jan 7;23(1):12. doi: 10.1186/s12884-022-05329-z. PMID: 36611144Free PMC Article
Horgan R, Youssef JA, Levy AT, Berger SI, Dreux S, Brizot ML, Boutall A, Abuhamad AZ, Angarita AM, Al-Kouatly HB
Obstet Gynecol 2021 Dec 1;138(6):897-904. doi: 10.1097/AOG.0000000000004605. PMID: 34735407
Sharma A, Jagannath VA, Puri L
Cochrane Database Syst Rev 2021 Apr 21;4(4):CD008708. doi: 10.1002/14651858.CD008708.pub5. PMID: 33880750Free PMC Article
Taylor SM, Parobek CM, Fairhurst RM
Lancet Infect Dis 2012 Jun;12(6):457-68. Epub 2012 Mar 23 doi: 10.1016/S1473-3099(12)70055-5. PMID: 22445352Free PMC Article

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