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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Current status of beta-thalassemia and its treatment strategies.
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
Genotype-Phenotype Correlation of β-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling.
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
Newborn Screening for Sickle Cell Disease in Liberia: A Pilot Study.
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

Prognosis

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
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
Current status of beta-thalassemia and its treatment strategies.
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
Newborn Screening for Sickle Cell Disease in Liberia: A Pilot Study.
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
Impact of iron deficiency on hemoglobin A2% in obligate β-thalassemia heterozygotes.
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
Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.
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

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
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
Comparison of cord blood hematological parameters among normal, α-thalassemia, and β-thalassemia fetuses between 17 and 38 weeks of gestation.
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
Newborn Screening for Sickle Cell Disease in Liberia: A Pilot Study.
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
Silent β-thalassemia mutations at -101 (C>T) and -71 (C>T) and their coinheritance with the sickle cell mutation in Bahrain.
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
Globin mRNA in beta-thalassemia heterozygotes with different beta-thalassemia alleles and in heterozygotes for hereditary persistence of fetal hemoglobin.
Smetanina NS, Adekile AD, Huisman TH
Acta Haematol 1996;96(3):162-9. doi: 10.1159/000203768. PMID: 8876614

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