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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

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
Current and future alternative therapies for beta-thalassemia major.
de Dreuzy E, Bhukhai K, Leboulch P, Payen E
Biomed J 2016 Feb;39(1):24-38. Epub 2016 Apr 6 doi: 10.1016/j.bj.2015.10.001. PMID: 27105596Free PMC Article
Beta-Thalassemia major and pregnancy.
Gulino FA, Vitale SG, Fauzia M, Cianci S, Pafumi C, Palumbo MA
Bratisl Lek Listy 2013;114(9):523-5. doi: 10.4149/bll_2013_109. PMID: 24020709
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

Thalassemia Status in Cambodia.
Sophâl C
Hemoglobin 2022 Jan;46(1):10-11. doi: 10.1080/03630269.2021.2008956. PMID: 35950584
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
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.
Aydinok Y
Hematology 2012 Apr;17 Suppl 1:S28-31. doi: 10.1179/102453312X13336169155295. PMID: 22507773

Prognosis

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
Thalassemia: Common Clinical Queries in Management.
Lal A, Bansal D
Indian J Pediatr 2020 Jan;87(1):75-81. Epub 2019 Oct 16 doi: 10.1007/s12098-019-03065-5. PMID: 31620986
Thalassemias and hemoglobinopathies in Turkey.
Canatan D
Hemoglobin 2014;38(5):305-7. Epub 2014 Jul 17 doi: 10.3109/03630269.2014.938163. PMID: 25030194
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 Diabetes Mellitus: Current State and Future Directions.
Taneera J, Mahgoub E, Qannita R, Alalami A, Shehadat OA, Youssef M, Dib A, Hajji AA, Hajji AA, Al-Khaja F, Dewedar H, Hamad M
Horm Metab Res 2024 Apr;56(4):272-278. Epub 2023 Oct 23 doi: 10.1055/a-2185-5073. PMID: 37871612
Thalassemia: Common Clinical Queries in Management.
Lal A, Bansal D
Indian J Pediatr 2020 Jan;87(1):75-81. Epub 2019 Oct 16 doi: 10.1007/s12098-019-03065-5. PMID: 31620986
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
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
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

Prevalence of Depression among Iranian Patients with Beta-Thalassemia Major: A Systematic Review and Meta-analysis.
Jaafari Z, Sadidi N, Abdolahinia Z, Shahesmaeili A
Iran J Med Sci 2022 Jan;47(1):15-24. doi: 10.30476/ijms.2020.85941.1557. PMID: 35017773Free 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
Total Antioxidant Capacity in beta-thalassemia: A systematic review and meta-analysis of case-control studies.
Manafikhi H, Drummen G, Palmery M, Peluso I
Crit Rev Oncol Hematol 2017 Feb;110:35-42. Epub 2016 Dec 8 doi: 10.1016/j.critrevonc.2016.12.007. PMID: 28109403
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

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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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