A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia
Author:
Publisher
S. Karger AG
Subject
Hematology,General Medicine
Reference8 articles.
1. Vernimmen D, Marques-Kranc F, Sharpe JA, Sloane-Stanley JA, Wood WG, Wallace HA, Smith AJ, Higgs DR: Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element (HS-40). Blood 2009;114:4253-4260.
2. Wu MY, He Y, Yan JM, Li DZ: A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassemia. Br J Haematol 2017;176:984-986.
3. Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR: De novodeletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassemia. Br J Haematol 2003;120:867-875.
4. Viprakasit V, Harteveld CL, Ayyub H, Stanley JS, Giordano PC, Wood WG, Higgs DR: A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood 2006;107:3811-3812.
5. Tang HS, Zhou JY, Xie XM, Li DZ: Newborn screening for α-thalassaemia by a capillary electrophoresis method. J Med Screen 2012;19:159.
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2. Identification of a novel 91.5 kb-deletion (αα) FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing;The Journal of Maternal-Fetal & Neonatal Medicine;2023-09-06
3. Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5’ boundary region;PLOS Genetics;2023-05-22
4. α, β, δ and γ thalassaemias and related conditions;Haemoglobinopathy Diagnosis;2020-02-28
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