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Items: 1 to 20 of 101

1.

Microdeletion of exon 3 in the HBA2 gene associated with mild α-thalassemia trait.

Lambert A, Wong AY, Kominami Y, Smith VC, Reddy S, Wadsworth LD, Au NH, MacGillivray RT.

Hemoglobin. 2013;37(2):192-6. doi: 10.3109/03630269.2013.763257. Epub 2013 Jan 29.

PMID:
23356414
2.

α-thalassemia trait caused by frameshift mutations in exon 2 of the α2-globin gene: HBA2:c.131delT and HBA2:c.143delA.

Finlayson J, Ghassemifar R, Holmes P, Grey D, Newbound C, Pell N, Jennens M, Greenwood L, Beilby J.

Hemoglobin. 2012;36(5):511-5.

PMID:
22943743
3.

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.

Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5.

PMID:
25476779
4.

α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].

Waye JS, Walker L, Eng B.

Hemoglobin. 2012;36(2):205-7. doi: 10.3109/03630269.2012.656172. Epub 2012 Feb 29.

PMID:
22375514
5.

Molecular and cellular characterization of a new α-thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon.

Qadah T, Finlayson J, Newbound C, Pell N, Pascoe M, Greenwood L, Holmes P, Grey D, Beilby J, Ghassemifar R.

Hemoglobin. 2012;36(3):244-52. doi: 10.3109/03630269.2012.670683. Epub 2012 Apr 23.

PMID:
22524210
7.

In vitro characterization of the α-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)].

Qadah T, Finlayson J, Ghassemifar R.

Hemoglobin. 2012;36(1):38-46. doi: 10.3109/03630269.2011.599086. Epub 2011 Oct 3.

PMID:
21967524
8.

Molecular characterization of Hb Hamilton Hill (HBA2: c.388delC), a novel HBA2 variant generating a premature termination codon and truncated HBA2 chain.

Qadah T, Finlayson J, North E, Ghassemifar R.

Hemoglobin. 2015;39(2):88-94. doi: 10.3109/03630269.2015.1016958. Epub 2015 Mar 20.

PMID:
25791745
9.

Novel human pathological mutations. Gene symbol: HBA2. Disease: Thalassemia alpha.

Refaldi C, Fasulo MR, Cesaretti C, Cappellini MD.

Hum Genet. 2009 Aug;126(2):342. No abstract available.

PMID:
19694027
10.

Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia.

Fortina P, Parrella T, Sartore M, Gottardi E, Gabutti V, Delgrosso K, Mansfield E, Rappaport E, Schwartz E, Camaschella C, et al.

Blood. 1994 Jun 1;83(11):3356-62.

11.

Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype.

Finlayson J, Ghassemifar R, Holmes P, Grey D, Newbound C, Pell N, Jennens M, Macaulay C, Greenwood L, Beilby J.

Hemoglobin. 2011;35(2):142-6. doi: 10.3109/03630269.2011.557462.

PMID:
21417571
12.

Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis.

Petropoulou M, Poula A, Traeger-Synodinos J, Vrettou C, Kanavakis E, Christopoulos TK, Ioannou PC.

Clin Chem Lab Med. 2015 Nov;53(12):1951-9. doi: 10.1515/cclm-2015-0082.

PMID:
26035111
13.

Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia.

Lacerra G, Prezioso R, Musollino G, Piluso G, Mastrullo L, De Angioletti M.

Eur J Haematol. 2013 Mar;90(3):214-9. doi: 10.1111/ejh.12066. Epub 2013 Feb 14.

PMID:
23281611
14.

Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events.

Law HY, Luo HY, Wang W, Ho JF, Najmabadi H, Ng IS, Steinberg MH, Chui DH, Chong SS.

Haematologica. 2006 Mar;91(3):297-302. Epub 2006 Feb 17.

15.

Haemoglobin Lleida: a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype.

Ayala S, Colomer D, Pujades A, Aymerich M, Vives Corrons JL.

Br J Haematol. 1996 Sep;94(4):639-44.

PMID:
8826886
16.

delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].

Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M.

Hum Mutat. 1997;9(4):344-7.

PMID:
9101295
17.

Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.

Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH.

Hemoglobin. 2001 Nov;25(4):391-6.

PMID:
11791872
18.

Nondeletional α-thalassemia (α2- IVS-1-116, A>G HBA2): an α2 gene point mutation detected in an African-American female for the first time.

Dainer P, Patel N, Zhuang L, Carmichael H, Kutlar F.

Acta Haematol. 2014;132(1):22-3. doi: 10.1159/000355426. Epub 2013 Dec 13. No abstract available.

PMID:
24356242
19.

A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.

Hamid M, Bokharaei Merci H, Galehdari H, Saberi AH, Kaikhaei B, Mohammadi-Anaei M, Ahmadzadeh A, Shariati G.

Arch Iran Med. 2014 Jul;17(7):475-6. doi: 0141707/AIM.005.

20.

Frequency of delta+ 27-thalassaemia in Sardinians.

Guiso L, Frogheri L, Pistidda P, Angioni L, Dore F, Pardini S, Longinotti M.

Clin Lab Haematol. 1996 Dec;18(4):241-4.

PMID:
9054695

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