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Beta-thalassemia major

MedGen UID:
283
•Concept ID:
C0002875
•
Disease or Syndrome
Synonym: Thalassemia Major
SNOMED CT: Thalassemia major (75451007); Homozygous thalassemia (75451007); Homozygous beta thalassemia (26682008); Cooley's anemia (26682008); Mediterranean anemia (26682008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016486
Orphanet: ORPHA231214

Definition

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions. [from ORDO]

Recent clinical studies

Etiology

BK virus associated haemorrhagic cystitis in related donor haematopoietic stem cell transplant recipients: A developing country experience.
Noor M, Niazi SK, Farooq H, Iftikhar R, Ghani E, Ahmad P
J Pak Med Assoc 2022 Oct;72(10):2080-2083. doi: 10.47391/JPMA.3497. PMID: 36661001
Changing patterns in the epidemiology of β-thalassemia.
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
Atrial fibrillation in β-thalassemia Major Patients: Diagnosis, Management and Therapeutic Options.
Barbero U, Fornari F, Guarguagli S, Gaglioti CM, Longo F, Doronzo B, Anselmino M, Piga A
Hemoglobin 2018 May;42(3):189-193. Epub 2018 Oct 1 doi: 10.1080/03630269.2018.1488724. PMID: 30270686
Thalassemia.
Aydinok Y
Hematology 2012 Apr;17 Suppl 1:S28-31. doi: 10.1179/102453312X13336169155295. PMID: 22507773
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Diagnosis

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
Changing patterns in the epidemiology of β-thalassemia.
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
β-Thalassemia intermedia: a comprehensive overview and novel approaches.
Asadov C, Alimirzoeva Z, Mammadova T, Aliyeva G, Gafarova S, Mammadov J
Int J Hematol 2018 Jul;108(1):5-21. Epub 2018 Jan 29 doi: 10.1007/s12185-018-2411-9. PMID: 29380178
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
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Therapy

Advances in the management of α-thalassemia major: reasons to be optimistic.
Horvei P, MacKenzie T, Kharbanda S
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):592-599. doi: 10.1182/hematology.2021000295. PMID: 34889445Free PMC Article
Hepatitis C and beta-thalassemia major in children: experience with glecaprevir/pibrentasvir.
Quintero García D, Sebastián Cuevas FJ, Crehuá Gaudiza E
Rev Esp Enferm Dig 2021 Feb;113(2):150-151. doi: 10.17235/reed.2020.7092/2020. PMID: 33207896
Thalassemia.
Aydinok Y
Hematology 2012 Apr;17 Suppl 1:S28-31. doi: 10.1179/102453312X13336169155295. PMID: 22507773
Management of beta-thalassemia major using transfusions and iron chelation with deferoxamine.
Freedman MH
Transfus Med Rev 1988 Sep;2(3):161-75. doi: 10.1016/s0887-7963(88)70041-3. PMID: 2980085
Chelation therapy in beta-thalassemia major. I. Intravenous and subcutaneous deferoxamine.
Graziano JH, Markenson A, Miller DR, Chang H, Bestak M, Meyers P, Pisciotto P, Rifkind A
J Pediatr 1978 Apr;92(4):648-52. doi: 10.1016/s0022-3476(78)80315-1. PMID: 633032

Prognosis

Survival and causes of death in patients with alpha and beta-thalassemia in Northern Thailand.
Tantiworawit A, Kamolsripat T, Piriyakhuntorn P, Rattanathammethee T, Hantrakool S, Chai-Adisaksopha C, Rattarittamrong E, Norasetthada L, Fanhchaksai K, Charoenkwan P
Ann Med 2024 Dec;56(1):2338246. Epub 2024 Apr 11 doi: 10.1080/07853890.2024.2338246. PMID: 38604224Free PMC Article
Thalassemia, a human blood disorder.
Shafique F, Ali S, Almansouri T, Van Eeden F, Shafi N, Khalid M, Khawaja S, Andleeb S, Hassan MU
Braz J Biol 2021;83:e246062. Epub 2021 Sep 3 doi: 10.1590/1519-6984.246062. PMID: 34495151
Changing patterns in the epidemiology of β-thalassemia.
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
Thalassemias in South Asia: clinical lessons learnt from Bangladesh.
Hossain MS, Raheem E, Sultana TA, Ferdous S, Nahar N, Islam S, Arifuzzaman M, Razzaque MA, Alam R, Aziz S, Khatun H, Rahim A, Morshed M
Orphanet J Rare Dis 2017 May 18;12(1):93. doi: 10.1186/s13023-017-0643-z. PMID: 28521805Free PMC Article
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

Clinical prediction guides

β-Thalassemia and ocular implications: a systematic review.
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
Desferrioxamine and urinary zinc excretion in beta-thalassemia major.
Uysal Z, Akar N, Kemahli S, Dincer N, Arcasoy A
Pediatr Hematol Oncol 1993 Jul-Sep;10(3):257-60. doi: 10.3109/08880019309029493. PMID: 8217542
Hypoparathyroidism in beta-thalassemia major. Clinical and laboratory observations in 24 patients.
De Sanctis V, Vullo C, Bagni B, Chiccoli L
Acta Haematol 1992;88(2-3):105-8. doi: 10.1159/000204662. PMID: 1466190
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
Beta-thalassemia in Turkey.
Oner R, Altay C, Gurgey A, Aksoy M, Kilinç Y, Stoming TA, Reese AL, Kutlar A, Kutlar F, Huisman TH
Hemoglobin 1990;14(1):1-13. doi: 10.3109/03630269009002250. PMID: 2200760

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
Speckle tracking echocardiography and β-thalassemia major. A systematic review.
Patsourakos D, Aggeli C, Dimitroglou Y, Delicou S, Xydaki K, Koukos M, Tsartsalis D, Gialeli F, Gatzoulis KA, Tousoulis D, Tsioufis K
Ann Hematol 2024 Sep;103(9):3335-3356. Epub 2023 Aug 1 doi: 10.1007/s00277-023-05380-6. PMID: 37526674Free PMC Article
A Systematic Review and Meta-Analysis of Stature Growth Complications in β-thalassemia Major Patients.
Arab-Zozani M, Kheyrandish S, Rastgar A, Miri-Moghaddam E
Ann Glob Health 2021 Jun 8;87(1):48. doi: 10.5334/aogh.3184. PMID: 34164261Free PMC Article
β-Thalassemia Major and Coronavirus-19, Mortality and Morbidity: a Systematic Review Study.
Zafari M, Rad MTS, Mohseni F, Nikbakht N
Hemoglobin 2021 Jan;45(1):1-4. Epub 2020 Dec 14 doi: 10.1080/03630269.2020.1857266. PMID: 33317358
β-Thalassemia and ocular implications: a systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      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.

    Curated

    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

    Reviews

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