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Items: 1 to 20 of 239

1.

Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.

Bento C, Oliveira AC, Neves J, Gameiro M, Cunha E, Coucelo M, Costa RM, Barbot J, Costa E, Fernández-Lago C, Ribeiro ML.

Hemoglobin. 2012;36(6):517-25. doi: 10.3109/03630269.2012.742911.

PMID:
23181747
2.

Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.

Harteveld CL, Rozendaal L, Blom NA, Lo-A-Njoe S, Akkerman N, Arkestijn S, Van Delft P, Giordano PC.

Hemoglobin. 2005;29(3):165-9.

PMID:
16114179
3.

Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.

Harteveld CL, Versteegh FG, Kok PJ, van Rooijen-Nijdam IH, van Delft P, Giordano PC.

Hemoglobin. 2006;30(3):349-54.

PMID:
16840225
4.
5.

Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.

Cunha E, Bento C, Oliveira A, Relvas L, Neves J, Gameiro M, Barros C, Araújo A, Macedo A, Rocha P, Costa R, Maia T, Ribeiro ML.

Hemoglobin. 2013;37(2):183-7. doi: 10.3109/03630269.2013.763822.

PMID:
23368878
6.
7.

Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent.

Roy P, Bhattacharya G, Banerjee D, Chandra S, Ghosh M, Choudhuri U, Das M, Dasgupta UB.

Hemoglobin. 2009;33(6):486-91. doi: 10.3109/03630260903336164.

PMID:
19958194
9.

Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].

Phylipsen M, Prior JF, Lim E, Lingam N, Finlayson J, Arkesteijn SG, Harteveld CL, Giordano PC.

Hemoglobin. 2010 Jan;34(2):123-6. doi: 10.3109/03630261003679854.

PMID:
20353346
10.

Study of three families with Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] in the Spanish population: three homozygous cases.

de la Fuente-Gonzalo F, Baiget M, Badell I, Ricard P, Vinuesa L, Martínez-Nieto J, Ropero P, Villegas A, González FA, Díaz-Mediavilla J, Erythropathology Spanish Group.

Hemoglobin. 2012;36(6):526-32. doi: 10.3109/03630269.2012.733988.

PMID:
23094635
11.

Simultaneous detection of Hb constant spring (α142, TAA>CAA, α2) and the α2 IVS-I donor site (-TGAGG) deletion by a simple polymerase chain reaction-based method in Iran.

Akhavan-Niaki H, Banihashemi A, Mostafazadeh A, Kholghi Oskooei V, Azizi M, Youssefi Kamangar R, Elmi MM.

Hemoglobin. 2012;36(2):124-30. doi: 10.3109/03630269.2012.657728.

PMID:
22356652
12.

Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism.

Harteveld CL, Vervloet M, Zweegman S, van Delft P, Akkermans N, Arkestijn S, Giordano PC.

Hemoglobin. 2005;29(4):257-62.

PMID:
16370485
13.

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.

Hemoglobin. 2016;40(2):75-84. doi: 10.3109/03630269.2015.1113990. Review.

PMID:
26635043
14.

Molecular and hematological characteristics of a novel form of α-globin gene triplication: the hemoglobin St.Luke's-Thailand [α95(G2)Pro→Arg] or Hb St. Luke's [A2] HBA2.

Singha K, Fucharoen G, Jetsrisuparb A, Fucharoen S.

Clin Biochem. 2013 May;46(7-8):675-80. doi: 10.1016/j.clinbiochem.2013.01.022.

PMID:
23395770
15.

Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T].

Joly P, Garcia C, Lacan P, Couprie N, Francina A.

Hemoglobin. 2011;35(2):147-51. doi: 10.3109/03630269.2010.550795.

PMID:
21417572
16.

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
17.

Identification of α-globin chain variants: a report from Iran.

Akbari MT, Hamid M.

Arch Iran Med. 2012 Sep;15(9):564-7. doi: 012159/AIM.0011.

18.

Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.

Warang P, Nair S, Nadkarni A, Ghosh K, Colah RB.

Hemoglobin. 2010;34(1):45-8. doi: 10.3109/03630260903547526.

PMID:
20113287
19.

A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).

Martin G, Villegas A, González FA, Ropero P, Hojas R, Polo M, Mateo M, Salvador M, Benavente C.

Hemoglobin. 2005;29(2):113-7.

PMID:
15921163
20.

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.

PMID:
22375514
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