U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thalassemia

MedGen UID:
21121
Concept ID:
C0039730
Disease or Syndrome
Synonym: Thalassemias
SNOMED CT: Hereditary leptocytosis (40108008); Thalassemia syndrome (84188003); Thalassemia (40108008)
 
Related genes: HBB-LCR, HBB, HBA2, HBA1
 
Monarch Initiative: MONDO:0000984

Definition

An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. [from NCI]

Additional description

From GeneReviews
Beta-thalassemia (β-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that does not require regular treatment with blood transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis.

Professional guidelines

PubMed

Stanley AY, Wallace JB, Hernandez AM, Spell JL
MCN Am J Matern Child Nurs 2022 Jan-Feb 01;47(1):25-32. doi: 10.1097/NMC.0000000000000787. PMID: 34860784
Prefumo F, Fichera A, Fratelli N, Sartori E
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:2-14. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.001. PMID: 30718211
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

Recent clinical studies

Etiology

Wahidiyat PA, Sari TT, Rahmartani LD, Iskandar SD, Pratanata AM, Yapiy I, Setianingsih I, Atmakusuma TD, Lubis AM
Hemoglobin 2022 Jan;46(1):39-44. doi: 10.1080/03630269.2021.2023565. PMID: 35950580
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Diagnosis

Origa R
Genet Med 2017 Jun;19(6):609-619. Epub 2016 Nov 3 doi: 10.1038/gim.2016.173. PMID: 27811859
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD
Int J Lab Hematol 2016 May;38 Suppl 1:32-40. Epub 2016 May 16 doi: 10.1111/ijlh.12527. PMID: 27183541
Piel FB, Weatherall DJ
N Engl J Med 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415. PMID: 25390741
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Therapy

Magrin E, Semeraro M, Hebert N, Joseph L, Magnani A, Chalumeau A, Gabrion A, Roudaut C, Marouene J, Lefrere F, Diana JS, Denis A, Neven B, Funck-Brentano I, Negre O, Renolleau S, Brousse V, Kiger L, Touzot F, Poirot C, Bourget P, El Nemer W, Blanche S, Tréluyer JM, Asmal M, Walls C, Beuzard Y, Schmidt M, Hacein-Bey-Abina S, Asnafi V, Guichard I, Poirée M, Monpoux F, Touraine P, Brouzes C, de Montalembert M, Payen E, Six E, Ribeil JA, Miccio A, Bartolucci P, Leboulch P, Cavazzana M
Nat Med 2022 Jan;28(1):81-88. Epub 2022 Jan 24 doi: 10.1038/s41591-021-01650-w. PMID: 35075288
Musallam KM, Bou-Fakhredin R, Cappellini MD, Taher AT
Am J Hematol 2021 Nov 1;96(11):1518-1531. Epub 2021 Aug 18 doi: 10.1002/ajh.26316. PMID: 34347889
Vichinsky E, Hoppe CC, Ataga KI, Ware RE, Nduba V, El-Beshlawy A, Hassab H, Achebe MM, Alkindi S, Brown RC, Diuguid DL, Telfer P, Tsitsikas DA, Elghandour A, Gordeuk VR, Kanter J, Abboud MR, Lehrer-Graiwer J, Tonda M, Intondi A, Tong B, Howard J; HOPE Trial Investigators
N Engl J Med 2019 Aug 8;381(6):509-519. Epub 2019 Jun 14 doi: 10.1056/NEJMoa1903212. PMID: 31199090
Niihara Y, Miller ST, Kanter J, Lanzkron S, Smith WR, Hsu LL, Gordeuk VR, Viswanathan K, Sarnaik S, Osunkwo I, Guillaume E, Sadanandan S, Sieger L, Lasky JL, Panosyan EH, Blake OA, New TN, Bellevue R, Tran LT, Razon RL, Stark CW, Neumayr LD, Vichinsky EP; Investigators of the Phase 3 Trial of l-Glutamine in Sickle Cell Disease
N Engl J Med 2018 Jul 19;379(3):226-235. doi: 10.1056/NEJMoa1715971. PMID: 30021096
Gupta SC, Patchva S, Aggarwal BB
AAPS J 2013 Jan;15(1):195-218. Epub 2012 Nov 10 doi: 10.1208/s12248-012-9432-8. PMID: 23143785Free PMC Article

Prognosis

Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi SAR, Sadia, Irfan M, Khan MA
Mol Genet Genomic Med 2021 Dec;9(12):e1788. Epub 2021 Nov 5 doi: 10.1002/mgg3.1788. PMID: 34738740Free PMC Article
Kattamis A, Forni GL, Aydinok Y, Viprakasit V
Eur J Haematol 2020 Dec;105(6):692-703. Epub 2020 Sep 21 doi: 10.1111/ejh.13512. PMID: 32886826Free PMC Article
Burstein R, Henry NJ, Collison ML, Marczak LB, Sligar A, Watson S, Marquez N, Abbasalizad-Farhangi M, Abbasi M, Abd-Allah F, Abdoli A, Abdollahi M, Abdollahpour I, Abdulkader RS, Abrigo MRM, Acharya D, Adebayo OM, Adekanmbi V, Adham D, Afshari M, Aghaali M, Ahmadi K, Ahmadi M, Ahmadpour E, Ahmed R, Akal CG, Akinyemi JO, Alahdab F, Alam N, Alamene GM, Alene KA, Alijanzadeh M, Alinia C, Alipour V, Aljunid SM, Almalki MJ, Al-Mekhlafi HM, Altirkawi K, Alvis-Guzman N, Amegah AK, Amini S, Amit AML, Anbari Z, Androudi S, Anjomshoa M, Ansari F, Antonio CAT, Arabloo J, Arefi Z, Aremu O, Armoon B, Arora A, Artaman A, Asadi A, Asadi-Aliabadi M, Ashraf-Ganjouei A, Assadi R, Ataeinia B, Atre SR, Quintanilla BPA, Ayanore MA, Azari S, Babaee E, Babazadeh A, Badawi A, Bagheri S, Bagherzadeh M, Baheiraei N, Balouchi A, Barac A, Bassat Q, Baune BT, Bayati M, Bedi N, Beghi E, Behzadifar M, Behzadifar M, Belay YB, Bell B, Bell ML, Berbada DA, Bernstein RS, Bhattacharjee NV, Bhattarai S, Bhutta ZA, Bijani A, Bohlouli S, Breitborde NJK, Britton G, Browne AJ, Nagaraja SB, Busse R, Butt ZA, Car J, Cárdenas R, Castañeda-Orjuela CA, Cerin E, Chanie WF, Chatterjee P, Chu DT, Cooper C, Costa VM, Dalal K, Dandona L, Dandona R, Daoud F, Daryani A, Das Gupta R, Davis I, Davis Weaver N, Davitoiu DV, De Neve JW, Demeke FM, Demoz GT, Deribe K, Desai R, Deshpande A, Desyibelew HD, Dey S, Dharmaratne SD, Dhimal M, Diaz D, Doshmangir L, Duraes AR, Dwyer-Lindgren L, Earl L, Ebrahimi R, Ebrahimpour S, Effiong A, Eftekhari A, Ehsani-Chimeh E, El Sayed I, El Sayed Zaki M, El Tantawi M, El-Khatib Z, Emamian MH, Enany S, Eskandarieh S, Eyawo O, Ezalarab M, Faramarzi M, Fareed M, Faridnia R, Faro A, Fazaeli AA, Fazlzadeh M, Fentahun N, Fereshtehnejad SM, Fernandes JC, Filip I, Fischer F, Foigt NA, Foroutan M, Francis JM, Fukumoto T, Fullman N, Gallus S, Gebre DG, Gebrehiwot TT, Gebremeskel GG, Gessner BD, Geta B, Gething PW, Ghadimi R, Ghadiri K, Ghajarzadeh M, Ghashghaee A, Gill PS, Gill TK, Golding N, Gomes NGM, Gona PN, Gopalani SV, Gorini G, Goulart BNG, Graetz N, Greaves F, Green MS, Guo Y, Haj-Mirzaian A, Haj-Mirzaian A, Hall BJ, Hamidi S, Haririan H, Haro JM, Hasankhani M, Hasanpoor E, Hasanzadeh A, Hassankhani H, Hassen HY, Hegazy MI, Hendrie D, Heydarpour F, Hird TR, Hoang CL, Hollerich G, Rad EH, Hoseini-Ghahfarokhi M, Hossain N, Hosseini M, Hosseinzadeh M, Hostiuc M, Hostiuc S, Househ M, Hsairi M, Ilesanmi OS, Imani-Nasab MH, Iqbal U, Irvani SSN, Islam N, Islam SMS, Jürisson M, Balalami NJ, Jalali A, Javidnia J, Jayatilleke AU, Jenabi E, Ji JS, Jobanputra YB, Johnson K, Jonas JB, Shushtari ZJ, Jozwiak JJ, Kabir A, Kahsay A, Kalani H, Kalhor R, Karami M, Karki S, Kasaeian A, Kassebaum NJ, Keiyoro PN, Kemp GR, Khabiri R, Khader YS, Khafaie MA, Khan EA, Khan J, Khan MS, Khang YH, Khatab K, Khater A, Khater MM, Khatony A, Khazaei M, Khazaei S, Khazaei-Pool M, Khubchandani J, Kianipour N, Kim YJ, Kimokoti RW, Kinyoki DK, Kisa A, Kisa S, Kolola T, Kosen S, Koul PA, Koyanagi A, Kraemer MUG, Krishan K, Krohn KJ, Kugbey N, Kumar GA, Kumar M, Kumar P, Kuupiel D, Lacey B, Lad SD, Lami FH, Larsson AO, Lee PH, Leili M, Levine AJ, Li S, Lim LL, Listl S, Longbottom J, Lopez JCF, Lorkowski S, Magdeldin S, Abd El Razek HM, Abd El Razek MM, Majeed A, Maleki A, Malekzadeh R, Malta DC, Mamun AA, Manafi N, Manda AL, Mansourian M, Martins-Melo FR, Masaka A, Massenburg BB, Maulik PK, Mayala BK, Mazidi M, McKee M, Mehrotra R, Mehta KM, Meles GG, Mendoza W, Menezes RG, Meretoja A, Meretoja TJ, Mestrovic T, Miller TR, Miller-Petrie MK, Mills EJ, Milne GJ, Mini GK, Mir SM, Mirjalali H, Mirrakhimov EM, Mohamadi E, Mohammad DK, Darwesh AM, Mezerji NMG, Mohammed AS, Mohammed S, Mokdad AH, Molokhia M, Monasta L, Moodley Y, Moosazadeh M, Moradi G, Moradi M, Moradi Y, Moradi-Lakeh M, Moradinazar M, Moraga P, Morawska L, Mosapour A, Mousavi SM, Mueller UO, Muluneh AG, Mustafa G, Nabavizadeh B, Naderi M, Nagarajan AJ, Nahvijou A, Najafi F, Nangia V, Ndwandwe DE, Neamati N, Negoi I, Negoi RI, Ngunjiri JW, Thi Nguyen HL, Nguyen LH, Nguyen SH, Nielsen KR, Ningrum DNA, Nirayo YL, Nixon MR, Nnaji CA, Nojomi M, Noroozi M, Nosratnejad S, Noubiap JJ, Motlagh SN, Ofori-Asenso R, Ogbo FA, Oladimeji KE, Olagunju AT, Olfatifar M, Olum S, Olusanya BO, Oluwasanu MM, Onwujekwe OE, Oren E, Ortega-Altamirano DDV, Ortiz A, Osarenotor O, Osei FB, Osgood-Zimmerman AE, Otstavnov SS, Owolabi MO, P A M, Pagheh AS, Pakhale S, Panda-Jonas S, Pandey A, Park EK, Parsian H, Pashaei T, Patel SK, Pepito VCF, Pereira A, Perkins S, Pickering BV, Pilgrim T, Pirestani M, Piroozi B, Pirsaheb M, Plana-Ripoll O, Pourjafar H, Puri P, Qorbani M, Quintana H, Rabiee M, Rabiee N, Radfar A, Rafiei A, Rahim F, Rahimi Z, Rahimi-Movaghar V, Rahimzadeh S, Rajati F, Raju SB, Ramezankhani A, Ranabhat CL, Rasella D, Rashedi V, Rawal L, Reiner RC Jr, Renzaho AMN, Rezaei S, Rezapour A, Riahi SM, Ribeiro AI, Roever L, Roro EM, Roser M, Roshandel G, Roshani D, Rostami A, Rubagotti E, Rubino S, Sabour S, Sadat N, Sadeghi E, Saeedi R, Safari Y, Safari-Faramani R, Safdarian M, Sahebkar A, Salahshoor MR, Salam N, Salamati P, Salehi F, Zahabi SS, Salimi Y, Salimzadeh H, Salomon JA, Sambala EZ, Samy AM, Santric Milicevic MM, Jose BPS, Saraswathy SYI, Sarmiento-Suárez R, Sartorius B, Sathian B, Saxena S, Sbarra AN, Schaeffer LE, Schwebel DC, Sepanlou SG, Seyedmousavi S, Shaahmadi F, Shaikh MA, Shams-Beyranvand M, Shamshirian A, Shamsizadeh M, Sharafi K, Sharif M, Sharif-Alhoseini M, Sharifi H, Sharma J, Sharma R, Sheikh A, Shields C, Shigematsu M, Shiri R, Shiue I, Shuval K, Siddiqi TJ, Silva JP, Singh JA, Sinha DN, Sisay MM, Sisay S, Sliwa K, Smith DL, Somayaji R, Soofi M, Soriano JB, Sreeramareddy CT, Sudaryanto A, Sufiyan MB, Sykes BL, Sylaja PN, Tabarés-Seisdedos R, Tabb KM, Tabuchi T, Taveira N, Temsah MH, Terkawi AS, Tessema ZT, Thankappan KR, Thirunavukkarasu S, To QG, Tovani-Palone MR, Tran BX, Tran KB, Ullah I, Usman MS, Uthman OA, Vahedian-Azimi A, Valdez PR, van Boven JFM, Vasankari TJ, Vasseghian Y, Veisani Y, Venketasubramanian N, Violante FS, Vladimirov SK, Vlassov V, Vos T, Vu GT, Vujcic IS, Waheed Y, Wakefield J, Wang H, Wang Y, Wang YP, Ward JL, Weintraub RG, Weldegwergs KG, Weldesamuel GT, Westerman R, Wiysonge CS, Wondafrash DZ, Woyczynski L, Wu AM, Xu G, Yadegar A, Yamada T, Yazdi-Feyzabadi V, Yilgwan CS, Yip P, Yonemoto N, Lebni JY, Younis MZ, Yousefifard M, Yousof HSA, Yu C, Yusefzadeh H, Zabeh E, Moghadam TZ, Bin Zaman S, Zamani M, Zandian H, Zangeneh A, Zerfu TA, Zhang Y, Ziapour A, Zodpey S, Murray CJL, Hay SI
Nature 2019 Oct;574(7778):353-358. Epub 2019 Oct 16 doi: 10.1038/s41586-019-1545-0. PMID: 31619795Free PMC Article
Canatan D
Hemoglobin 2014;38(5):305-7. Epub 2014 Jul 17 doi: 10.3109/03630269.2014.938163. PMID: 25030194
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

Clinical prediction guides

Jaing TH, Chang TY, Chen SH, Lin CW, Wen YC, Chiu CC
Medicine (Baltimore) 2021 Nov 12;100(45):e27522. doi: 10.1097/MD.0000000000027522. PMID: 34766559Free PMC Article
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
Thein SL
Adv Exp Med Biol 2017;1013:27-57. doi: 10.1007/978-1-4939-7299-9_2. PMID: 29127676
Kujovich JL
Obstet Gynecol Clin North Am 2016 Jun;43(2):247-64. Epub 2016 Mar 18 doi: 10.1016/j.ogc.2016.01.009. PMID: 27212091
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD
Int J Lab Hematol 2016 May;38 Suppl 1:32-40. Epub 2016 May 16 doi: 10.1111/ijlh.12527. PMID: 27183541

Recent systematic reviews

Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Biswas S, Gomez J, Horgan R, Sibai BM, Saad A, Powel JE, Al-Kouatly HB
Am J Obstet Gynecol MFM 2023 Sep;5(9):101067. Epub 2023 Jun 28 doi: 10.1016/j.ajogmf.2023.101067. PMID: 37385374
Charoenngam N, Rittiphairoj T, Ponvilawan B
Arch Osteoporos 2021 Nov 13;16(1):171. doi: 10.1007/s11657-021-01026-0. PMID: 34773506
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article
Orphanidou-Vlachou E, Tziakouri-Shiakalli C, Georgiades CS
Semin Ultrasound CT MR 2014 Jun;35(3):255-62. Epub 2013 Dec 19 doi: 10.1053/j.sult.2013.12.001. PMID: 24929265

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...