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2. A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [(A) γ(E19)Ile→Thr, HBG1:c.227T>C]. Pirastru M; Mereu P; Trova S; Manca L; Masala B Eur J Haematol; 2014 Jun; 92(6):510-3. PubMed ID: 24483321 [TBL] [Abstract][Full Text] [Related]
3. Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin Wareham). Gorfinkel L; Wachter F; Luo HY; Hansbury E; Williams DA; Agarwal A; Chui DHK; Cantor AB Pediatr Blood Cancer; 2023 Jan; 70(1):e30067. PubMed ID: 36250986 [TBL] [Abstract][Full Text] [Related]
4. Hb Moscva [β24(B6)Gly→Asp (GGT>GAT), HBB: c.74G>A]: An Unstable Hemoglobin Newly Detected as a De Novo Mutation in a Mauritanian Patient. Ghaber SM; Trabelsi N; Salem ML; Haddad F; Abba A; Darragi I; Abbes S Hemoglobin; 2018 Jan; 42(1):7-10. PubMed ID: 29564956 [TBL] [Abstract][Full Text] [Related]
5. Two new γ chain variants: Hb F-Augusta GA [(G)γ59(E3)Lys → Arg; HBG2: c.179A > G] and Hb F-Port Royal-II [(A)γ125(H3)Glu → Ala; HBG1: c.377A > C]. Kutlar F; Ameri A; Patel NH; Zhuang L; Johnson LE; Cheng ML; Kutlar A Hemoglobin; 2014; 38(5):376-80. PubMed ID: 25271994 [TBL] [Abstract][Full Text] [Related]
6. Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn. Pirastru M; Mereu P; Trova S; Masala B; Manca L Hemoglobin; 2016; 40(1):61-3. PubMed ID: 26573261 [TBL] [Abstract][Full Text] [Related]
7. Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. Akinbami AO; Campbell AD; Han ZJ; Luo HY; Chui DH; Steinberg MH Hemoglobin; 2016; 40(1):64-5. PubMed ID: 26372199 [TBL] [Abstract][Full Text] [Related]
8. Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGA>GAA]. Cui J; Baysdorfer C; Azimi M; Vichinsky EP; Hoppe CC Hemoglobin; 2012; 36(3):305-9. PubMed ID: 22384921 [TBL] [Abstract][Full Text] [Related]
10. Identical mutations in the paralogous human γ-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. Papachatzopoulou A; Patrinos GP Hemoglobin; 2011; 35(2):135-41. PubMed ID: 21417570 [TBL] [Abstract][Full Text] [Related]
11. [Analysis of clinical phenotype and genotype of unstable Hemoglobin Rush]. Ge S; Yang B; Yi W; Huang K; Liu H; Huang X; Chu J; Yang Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):15-20. PubMed ID: 28186586 [TBL] [Abstract][Full Text] [Related]
12. Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin. Toma S; Tenorio M; Oakley M; Thein SL; Clark BE Hemoglobin; 2014; 38(1):67-9. PubMed ID: 24144231 [TBL] [Abstract][Full Text] [Related]
14. Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient. Grimholt RM; Vestli A; Urdal P; Bechensteen AG; Fjeld B; Dalhus B; Klingenberg O Hemoglobin; 2018 Mar; 42(2):78-83. PubMed ID: 30032685 [TBL] [Abstract][Full Text] [Related]
15. Hb F-Zhejiang: a Hb F variant due to a novel Ggamma mutation [Ggamma101(G3)Glu-->Gln, GAG>CAG] detected in a Chinese newborn. Liao C; Zhou JY; Xie XM; Li DZ Hemoglobin; 2010; 34(1):107-9. PubMed ID: 20113294 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 26635043 [TBL] [Abstract][Full Text] [Related]
17. A new Aγ-globin chain variant: Hb F-Sykesville MD [Aγ113(G15)Val → Ile; HBG1: c.340G>A] detected in a Caucasian baby. Patel N; Fixler J; Unguru Y; Kutlar A; Kutlar F Hemoglobin; 2015; 39(1):52-4. PubMed ID: 25565447 [TBL] [Abstract][Full Text] [Related]
18. Neonatal cyanosis due to a new (G)γ-globin variant causing low oxygen affinity: Hb F-Sarajevo [(G)γ102(G4)Asn→Thr, AAC>ACC]. Zimmermann-Baer U; Capalo R; Dutly F; Saller E; Troxler H; Kohler M; Frischknecht H Hemoglobin; 2012; 36(2):109-13. PubMed ID: 22384797 [TBL] [Abstract][Full Text] [Related]
19. Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity and instability of Hb. Suzuki Y; Shimizu T; Sakai H; Tamaki M; Koizumi Ki; Kuriyama T; Tsuchida E; Koseki H; Shirasawa T Biochem Biophys Res Commun; 2002 Jul; 295(4):869-76. PubMed ID: 12127975 [TBL] [Abstract][Full Text] [Related]