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Thalassemia, beta+, silent allele

MedGen UID:
349988
Concept ID:
C1861232
Disease or Syndrome
Synonym: Thalassemia, Beta+, Silent Allele
 
Monarch Initiative: MONDO:0008545
OMIM®: 187550

Clinical features

From HPO
Reduced beta/alpha synthesis ratio
MedGen UID:
868732
Concept ID:
C4023137
Finding
A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.

Professional guidelines

PubMed

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
Abdullah UYH, Ibrahim HM, Mahmud NB, Salleh MZ, Teh LK, Noorizhab MNFB, Zilfalil BA, Jassim HM, Wilairat P, Fucharoen S
Hemoglobin 2020 May;44(3):184-189. Epub 2020 Jun 26 doi: 10.1080/03630269.2020.1781652. PMID: 32586164
Tubman VN, Marshall R, Jallah W, Guo D, Ma C, Ohene-Frempong K, London WB, Heeney MM
Pediatr Blood Cancer 2016 Apr;63(4):671-6. Epub 2016 Jan 6 doi: 10.1002/pbc.25875. PMID: 26739520Free PMC Article

Recent clinical studies

Etiology

Long J, Liu E
Ann Hum Genet 2022 Mar;86(2):63-70. Epub 2021 Sep 24 doi: 10.1111/ahg.12446. PMID: 34558661
Zhan W, Guo H, Hu S, Wang J, Qin D, Liang J, Du L, Luo M
Sci Rep 2021 Feb 15;11(1):3844. doi: 10.1038/s41598-021-82297-y. PMID: 33589684Free PMC Article
Abdullah UYH, Ibrahim HM, Mahmud NB, Salleh MZ, Teh LK, Noorizhab MNFB, Zilfalil BA, Jassim HM, Wilairat P, Fucharoen S
Hemoglobin 2020 May;44(3):184-189. Epub 2020 Jun 26 doi: 10.1080/03630269.2020.1781652. PMID: 32586164
Sharma P, Das R, Trehan A, Bansal D, Chhabra S, Kaur J, Marwaha RK, Varma N, Garewal G
Int J Lab Hematol 2015 Feb;37(1):105-11. Epub 2014 Apr 23 doi: 10.1111/ijlh.12246. PMID: 24754744
Al Moamen NJ, Mahdi F, Salman E, Ahmed T, Abbas R, Al Arrayed S, Sanad H, Ahmed AA
Hemoglobin 2013;37(4):369-77. Epub 2013 Apr 15 doi: 10.3109/03630269.2013.785434. PMID: 23586372

Diagnosis

Ning S, Qin Y, Liang Y, Liang Y, Xie Y, Lu Y, Wei G, Xu R, Liu Y, Li J
Gene 2023 Jul 30;875:147505. Epub 2023 May 20 doi: 10.1016/j.gene.2023.147505. PMID: 37217151
Long J, Liu E
Ann Hum Genet 2022 Mar;86(2):63-70. Epub 2021 Sep 24 doi: 10.1111/ahg.12446. PMID: 34558661
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
Abdullah UYH, Ibrahim HM, Mahmud NB, Salleh MZ, Teh LK, Noorizhab MNFB, Zilfalil BA, Jassim HM, Wilairat P, Fucharoen S
Hemoglobin 2020 May;44(3):184-189. Epub 2020 Jun 26 doi: 10.1080/03630269.2020.1781652. PMID: 32586164
Origa R
Genet Med 2017 Jun;19(6):609-619. Epub 2016 Nov 3 doi: 10.1038/gim.2016.173. PMID: 27811859

Prognosis

Zou J, Huang S, Xi H, Huang C, Zou L, Qiu L, Nie X, Zhou J, Zhuang Y, Chen Y, Xie L, Liu N, Lin J
Int J Lab Hematol 2022 Feb;44(1):223-228. Epub 2021 Sep 10 doi: 10.1111/ijlh.13687. PMID: 34505740
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
Tubman VN, Marshall R, Jallah W, Guo D, Ma C, Ohene-Frempong K, London WB, Heeney MM
Pediatr Blood Cancer 2016 Apr;63(4):671-6. Epub 2016 Jan 6 doi: 10.1002/pbc.25875. PMID: 26739520Free PMC Article
Sharma P, Das R, Trehan A, Bansal D, Chhabra S, Kaur J, Marwaha RK, Varma N, Garewal G
Int J Lab Hematol 2015 Feb;37(1):105-11. Epub 2014 Apr 23 doi: 10.1111/ijlh.12246. PMID: 24754744
Pagano L, Lacerra G, Camardella L, De Angioletti M, Fioretti G, Maglione G, de Bonis C, Guarino E, Viola A, Cutolo R
Blood 1991 Dec 1;78(11):3070-5. PMID: 1954392

Clinical prediction guides

Zou J, Huang S, Xi H, Huang C, Zou L, Qiu L, Nie X, Zhou J, Zhuang Y, Chen Y, Xie L, Liu N, Lin J
Int J Lab Hematol 2022 Feb;44(1):223-228. Epub 2021 Sep 10 doi: 10.1111/ijlh.13687. PMID: 34505740
Zhan W, Guo H, Hu S, Wang J, Qin D, Liang J, Du L, Luo M
Sci Rep 2021 Feb 15;11(1):3844. doi: 10.1038/s41598-021-82297-y. PMID: 33589684Free PMC Article
Tubman VN, Marshall R, Jallah W, Guo D, Ma C, Ohene-Frempong K, London WB, Heeney MM
Pediatr Blood Cancer 2016 Apr;63(4):671-6. Epub 2016 Jan 6 doi: 10.1002/pbc.25875. PMID: 26739520Free PMC Article
Al Moamen NJ, Mahdi F, Salman E, Ahmed T, Abbas R, Al Arrayed S, Sanad H, Ahmed AA
Hemoglobin 2013;37(4):369-77. Epub 2013 Apr 15 doi: 10.3109/03630269.2013.785434. PMID: 23586372
Smetanina NS, Adekile AD, Huisman TH
Acta Haematol 1996;96(3):162-9. doi: 10.1159/000203768. PMID: 8876614

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