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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

Genotype-Phenotype Study of β-Thalassemia Patients in Sabah.
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
Progress Toward the Control and Management of the Thalassemias.
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
Treatment of anaplastic glioma.
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

Hemolytic disease of the fetus and newborn: systematic literature review of the antenatal landscape.
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
Congenital dyserythropoietic anemias.
Iolascon A, Andolfo I, Russo R
Blood 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750
Human genetics and malaria resistance.
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
Beta-thalassemia.
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328
Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches.
Steinberg MH
ScientificWorldJournal 2008 Dec 25;8:1295-324. doi: 10.1100/tsw.2008.157. PMID: 19112541Free PMC Article

Diagnosis

Imbalances in circulating angiogenic factors in the pathophysiology of preeclampsia and related disorders.
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
Congenital dyserythropoietic anemias.
Iolascon A, Andolfo I, Russo R
Blood 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750
Molecular basis of α-thalassemia.
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
β-Thalassemia.
Origa R
Genet Med 2017 Jun;19(6):609-619. Epub 2016 Nov 3 doi: 10.1038/gim.2016.173. PMID: 27811859
Beta-thalassemia.
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Therapy

Nipocalimab in Early-Onset Severe Hemolytic Disease of the Fetus and Newborn.
Moise KJ Jr, Ling LE, Oepkes D, Tiblad E, Verweij EJTJ, Lopriore E, Smoleniec J, Sachs UJ, Bein G, Kilby MD, Miller RS, Devlieger R, Audibert F, Emery SP, Markham K, Norton ME, Ocón-Hernández O, Pandya P, Pereira L, Silver RM, Windrim R, Streisand JB, Leu JH, Mirza A, Smith V, Schwartz LB, Tjoa ML, Saeed-Khawaja S, Komatsu Y, Bussel JB; UNITY Study Group
N Engl J Med 2024 Aug 8;391(6):526-537. doi: 10.1056/NEJMoa2314466. PMID: 39115062
Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
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
Thalassemia Intermedia: Chelator or Not?
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
New therapeutic targets in transfusion-dependent and -independent thalassemia.
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
Thalassemia.
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

Prognosis

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
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
Imbalances in circulating angiogenic factors in the pathophysiology of preeclampsia and related disorders.
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
MicroRNAs in β-thalassemia.
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
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
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
Population Screening for Hemoglobinopathies.
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

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
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
Hemolytic disease of the fetus and newborn: systematic literature review of the antenatal landscape.
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
Imbalances in circulating angiogenic factors in the pathophysiology of preeclampsia and related disorders.
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
The expanding phenotypes of cohesinopathies: one ring to rule them all!
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
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
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

Hemolytic disease of the fetus and newborn: systematic literature review of the antenatal landscape.
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
Etiology and Outcome of Isolated Fetal Ascites: A Systematic Review.
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
Hematopoietic stem cell transplantation for people with β-thalassaemia.
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
Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis.
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
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T
Mol Genet Metab 2010 Oct-Nov;101(2-3):253-7. Epub 2010 Jun 22 doi: 10.1016/j.ymgme.2010.06.009. PMID: 20638314

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