Similar articles for PMID: 30700179

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1

Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.

Wajcman H, de Brevern AG, Riou J, Latouche C, Marden MC, Pissard S. Wajcman H, et al. Hemoglobin. 2018 Sep-Nov;42(5-6):287-293. doi: 10.1080/03630269.2018.1556683. Epub 2019 Jan 30. Hemoglobin. 2018. PMID: 30700179

2

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM. Henderson SJ, et al. Hemoglobin. 2016;40(2):75-84. doi: 10.3109/03630269.2015.1113990. Epub 2015 Dec 4. Hemoglobin. 2016. PMID: 26635043 Review.

3

Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.

Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A, Vrettou C, Stamoulakatou A, Kanavakis E. Traeger-Synodinos J, et al. Blood Cells Mol Dis. 2000 Aug;26(4):276-84. doi: 10.1006/bcmd.2000.0307. Blood Cells Mol Dis. 2000. PMID: 11042028

4

Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G).

Viprakasit V, Ekwattanakit S, Chalaow N, Riolueang S, Wijit S, Tanyut P, Chat-Uthai N, Tachavanich K. Viprakasit V, et al. Acta Haematol. 2014;131(2):88-94. doi: 10.1159/000353119. Epub 2013 Sep 26. Acta Haematol. 2014. PMID: 24081251

5

Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].

Renoux C, Feray C, Joly P, Lacan P, Francina A. Renoux C, et al. Hemoglobin. 2015;39(3):147-51. doi: 10.3109/03630269.2015.1031243. Epub 2015 Jun 23. Hemoglobin. 2015. PMID: 26100115

6

Two new hemoglobin variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb madison-NC [β119(GH2)Gly→Ser; HBB: c.358G>A].

Kutlar F, Unguru Y, Dixon N, Patel N, Bailey L, Zhuang L, Carmichael H, Kutlar A. Kutlar F, et al. Hemoglobin. 2014;38(3):207-10. doi: 10.3109/03630269.2014.881371. Epub 2014 Jan 29. Hemoglobin. 2014. PMID: 24471829

7

Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the - -^SEA (Southeast Asian) α-Thalassemia Deletion.

Chen WD, Ren YX, Wang YJ, Xie WJ, Li J, Xu AP, Ji L. Chen WD, et al. Hemoglobin. 2019 Jul-Sep;43(4-5):286-288. doi: 10.1080/03630269.2019.1680383. Epub 2019 Oct 25. Hemoglobin. 2019. PMID: 31650882

8

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Kattamis A, Delaporta P, Fylaktou I, Vrettou C, Kyriakopoulou D, Stamoulakatou A, Papassotiriou I, Kanavakis E, Traeger-Synodinos J. Kattamis A, et al. Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5. Hemoglobin. 2015. PMID: 25476779

9

Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity.

Brunner-Agten S, von Känel T, Röthlisberger B, Broquet C, Huber AR. Brunner-Agten S, et al. Hemoglobin. 2017 Jan;41(1):1-5. doi: 10.1080/03630269.2017.1302467. Hemoglobin. 2017. PMID: 28532286 Review.

10

Complex interaction of hemoglobin (Hb) Nakhon Ratchasima [α63(E12)Ala→Val], a novel α2-globin chain variant with Hb E [β26(B8)Glu→Lys] and a deletional α(+)-thalassemia.

Srivorakun H, Fucharoen G, Puangplruk R, Kheawon N, Fucharoen S. Srivorakun H, et al. Eur J Haematol. 2011 Jul;87(1):68-72. doi: 10.1111/j.1600-0609.2011.01616.x. Eur J Haematol. 2011. PMID: 21447006

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