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Thalassemia intermedia

MedGen UID:
82892
•Concept ID:
C0271979
•
Disease or Syndrome
Synonyms: Intermedia, Thalassemia; Intermedias, Thalassemia; Thalassemia Intermedia; Thalassemia Intermedias
SNOMED CT: Thalassemia intermedia (934007)
 
OMIM®: 141900

Professional guidelines

PubMed

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 thalassemia and thalassemia intermedia: epidemiology, complications, and management.
Vichinsky E
Curr Med Res Opin 2016;32(1):191-204. Epub 2015 Nov 25 doi: 10.1185/03007995.2015.1110128. PMID: 26479125
Guidelines for diagnosis and management of Beta-thalassemia intermedia.
Karimi M, Cohan N, De Sanctis V, Mallat NS, Taher A
Pediatr Hematol Oncol 2014 Oct;31(7):583-96. doi: 10.3109/08880018.2014.937884. PMID: 25247665

Recent clinical studies

Etiology

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Alpha- and Beta-thalassemia: Rapid Evidence Review.
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Beta-thalassemia.
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Diagnosis

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
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.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Beta-thalassemia.
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

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
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
Retinal abnormalities in β-thalassemia major.
Bhoiwala DL, Dunaief JL
Surv Ophthalmol 2016 Jan-Feb;61(1):33-50. Epub 2015 Aug 29 doi: 10.1016/j.survophthal.2015.08.005. PMID: 26325202Free PMC Article
Thalassemia and hypercoagulability.
Taher AT, Otrock ZK, Uthman I, Cappellini MD
Blood Rev 2008 Sep;22(5):283-92. Epub 2008 Jun 3 doi: 10.1016/j.blre.2008.04.001. PMID: 18511163
Butyrate trials.
Cappellini MD, Graziadei G, Ciceri L, Comino A, Bianchi P, Pomati M, Fiorelli G
Ann N Y Acad Sci 1998 Jun 30;850:110-9. doi: 10.1111/j.1749-6632.1998.tb10468.x. PMID: 9668533

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
Homeobox A5 and A9 expression and beta-thalassemia.
Badr E, El-Sayed IT, Alasadi M
Br J Biomed Sci 2021 Jul;78(3):117-121. Epub 2021 Mar 12 doi: 10.1080/09674845.2021.1877926. PMID: 33461426
How I treat thalassemia.
Rachmilewitz EA, Giardina PJ
Blood 2011 Sep 29;118(13):3479-88. Epub 2011 Aug 2 doi: 10.1182/blood-2010-08-300335. PMID: 21813448
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free 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

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
Homeobox A5 and A9 expression and beta-thalassemia.
Badr E, El-Sayed IT, Alasadi M
Br J Biomed Sci 2021 Jul;78(3):117-121. Epub 2021 Mar 12 doi: 10.1080/09674845.2021.1877926. PMID: 33461426
β-thalassemia intermedia: a clinical perspective.
Musallam KM, Taher AT, Rachmilewitz EA
Cold Spring Harb Perspect Med 2012 Jul;2(7):a013482. doi: 10.1101/cshperspect.a013482. PMID: 22762026Free PMC Article
Thalassemia intermedia: revisited.
Taher A, Isma'eel H, Cappellini MD
Blood Cells Mol Dis 2006 Jul-Aug;37(1):12-20. Epub 2006 Jun 5 doi: 10.1016/j.bcmd.2006.04.005. PMID: 16737833
Beta-thalassemia in Yugoslavia.
Dimovski A, Efremov DG, Jankovic L, Juricic D, Zisovski N, Stojanovski N, Nikolov N, Petkov GT, Reese AL, Stoming TA
Hemoglobin 1990;14(1):15-24. doi: 10.3109/03630269009002251. PMID: 2200761

Recent systematic reviews

Pregnancy outcomes and iron status in β-thalassemia major and intermedia: a systematic review and meta-analysis.
Vlachodimitropoulou E, Mogharbel H, Kuo KHM, Hwang M, Ward R, Shehata N, Malinowski AK
Blood Adv 2024 Feb 13;8(3):746-757. doi: 10.1182/bloodadvances.2023011636. PMID: 38181780Free PMC Article
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
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
Cerebral thrombosis in patients with β-thalassemia: a systematic review.
Haghpanah S, Karimi M
Blood Coagul Fibrinolysis 2012 Apr;23(3):212-7. doi: 10.1097/MBC.0b013e3283502975. PMID: 22322139
Thalassemia trait and arterial thromboembolic events: a systematic review and a meta-analysis of the literature.
Dentali F, Romualdi E, Ageno W, Cappellini MD, Mannucci PM
J Thromb Haemost 2011 May;9(5):917-21. doi: 10.1111/j.1538-7836.2011.04253.x. PMID: 21382170

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