General References
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- Lafferty J, Ali M, Matthew K, Eng B, Patterson M, Waye JS: Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr]. Hemoglobin. 1995;19(6):335-41. [PubMed:8718692 ]
- Baudin-Chich V, Wajcman H, Gombaud-Saintonge G, Arous N, Riou J, Briere J, Galacteros F: Hemoglobin Brest [beta 127 (H5)Gln----Lys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior. Hemoglobin. 1988;12(2):179-88. [PubMed:3384710 ]
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- Tamagnini GP, Ribeiro ML, Valente V, Ramachandran M, Wilson JB, Baysal E, Gu LH, Huisman TH: Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant. Hemoglobin. 1991;15(6):487-96. [PubMed:1814856 ]
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- Liu JS, Molchanova TP, Gu LH, Wilson JB, Hopmeier P, Schnedl W, Balaun E, Krejs GJ, Huisman TH: Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria. Hemoglobin. 1992;16(6):493-501. [PubMed:1487420 ]
- Ikkala E, Koskela J, Pikkarainen P, Rahiala EL, El-Hazmi MA, Nagai K, Lang A, Lehmann H: Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met). Acta Haematol. 1976;56(5):257-75. [PubMed:826083 ]
- Ohba Y, Miyaji T, Murakami M, Kadowaki S, Fujita T, Oimomi M, Hatanaka H, Ishikawa K, Baba S, Hitaka K, et al.: Hb Himeji or beta 140 (H18) Ala----Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation. Hemoglobin. 1986;10(2):109-25. [PubMed:3754244 ]
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- Frischknecht H, Ventruto M, Hess D, Hunziker P, Rosatelli MC, Cao A, Breitenstein U, Fehr J, Tuchschmid P: HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family. Hemoglobin. 1996 Feb;20(1):31-40. [PubMed:8745430 ]
- Owen MC, Ockelford PA, Wells RM: Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant of the alpha 1 beta 2 contact. Hemoglobin. 1993 Dec;17(6):513-21. [PubMed:8144352 ]
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- Aksoy M, Erdem S, Efremov GD, Wilson JB, Huisman TH, Schroeder WA, Shelton JR, Shelton JB, Ulitin ON, Muftuoglu A: Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) ). J Clin Invest. 1972 Sep;51(9):2380-7. [PubMed:4639022 ]
- Gaudry CL Jr, Pitel PA, Jue DL, Hine TK, Johnson MH, Moo-Penn WF: Hb Jacksonville [alpha 2 beta 2(54)(D5)Val----Asp]: a new unstable variant found in a patient with hemolytic anemia. Hemoglobin. 1990;14(6):653-9. [PubMed:2101840 ]
- Lu YQ, Fan JL, Liu JF, Hu HL, Peng XH, Huang CH, Huang PY, Chen SS, Jai PC, Yang KG, et al.: Hemoglobin Jianghua [beta 120(GH3) LYS leads to ILE]: a new fast-moving variant found in China. Hemoglobin. 1983;7(4):321-6. [PubMed:6618888 ]
- Landin B: Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden. Hemoglobin. 1993 Jun;17(3):201-8. [PubMed:8330972 ]
- Arous N, Galacteros F, Fessas P, Loukopoulos D, Blouquit Y, Komis G, Sellaye M, Boussiou M, Rosa J: Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia. FEBS Lett. 1982 Oct 18;147(2):247-50. [PubMed:7173395 ]
- Harano T, Harano K, Kushida Y, Imai K, Nishinakamura R, Matsunaga T: Hb Kodaira [beta 146(HC3)His----Gln]: a new beta chain variant with an amino acid substitution at the C-terminus. Hemoglobin. 1992;16(1-2):85-91. [PubMed:1634367 ]
- Harano T, Harano K, Ueda S, Imai N, Kitazumi T: A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu or alpha 2 beta 2 84 (EF8) Thr----Ile. Hemoglobin. 1986;10(4):417-20. [PubMed:3744871 ]
- Divoky V, Svobodova M, Indrak K, Chrobak L, Molchanova TP, Huisman TH: Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family. Hemoglobin. 1993 Aug;17(4):319-28. [PubMed:7693620 ]
- Merault G, Keclard L, Garin J, Poyart C, Blouquit Y, Arous N, Galacteros F, Feingold J, Rosa J: Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin. Hemoglobin. 1986;10(6):593-605. [PubMed:3557994 ]
- Wajcman H, Kister J, Vasseur C, Blouquit Y, Trastour JC, Cottenceau D, Galacteros F: Structure of the EF corner favors deamidation of asparaginyl residues in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) Leu----His]. Biochim Biophys Acta. 1992 Feb 14;1138(2):127-32. [PubMed:1540659 ]
- Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Hu H, Wilson JB, Webber BB, Kutlar F, Kutlar A, Huisman TH: Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant. Hemoglobin. 1988;12(2):163-70. [PubMed:3384708 ]
- Berlin G, Wranne B, Jeppsson JO: Hb Linkoping (beta 36 Pro----Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish origin. Eur J Haematol. 1987 Nov;39(5):452-6. [PubMed:3691763 ]
- Marinucci M, Boissel JP, Massa A, Wajcman H, Tentori L, Labie D: Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC). Hemoglobin. 1983;7(5):423-33. [PubMed:6629824 ]
- Sciarratta GV, Ivaldi G: Hb Matera [beta 55(D6)Met----Lys]: a new unstable hemoglobin variant in an Italian family. Hemoglobin. 1990;14(1):79-85. [PubMed:2384314 ]
- Nakatsuji T, Miwa S, Ohba Y, Hattori Y, Miyaji T, Miyata H, Shinohara T, Hori T, Takayama J: Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the isopropanol test. Hemoglobin. 1981;5(7-8):653-66. [PubMed:7338468 ]
- Ohba Y, Miyaji T, Matsuoka M, Sugiyama K, Suzuki T, Sugiura T: Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia. Hemoglobin. 1977;1(5):467-77. [PubMed:893142 ]
- Ramachandran M, Gu LH, Wilson JB, Kitundu MN, Adekile AD, Liu JC, McKie KM, Huisman TH: A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu----Val] observed in association with HB S in an Arabian family. Hemoglobin. 1992;16(4):259-66. [PubMed:1517102 ]
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- Ricco G, Pich PG, Mazza U, Rossi G, Ajmar F, Arese P, Gallo E: Hb J Sicilia: beta 65 (E9) Lys-Asn, a beta homologue of Hb Zambia. FEBS Lett. 1974 Feb 15;39(2):200-4. [PubMed:4852224 ]
- Como PF, Wylie BR, Trent RJ, Bruce D, Volpato F, Wilkinson T, Kronenberg H, Holland RA, Tibben EA: A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [beta 111(G13)Val----Ala]. Hemoglobin. 1991;15(1-2):53-65. [PubMed:1917537 ]
- Arous N, Braconnier F, Thillet J, Blouquit Y, Galacteros F, Chevrier M, Bordahandy C, Rosa J: Hemoglobin Saint Mande beta 102 (G4) asn replaced by tyr: a new low oxygen affinity variant. FEBS Lett. 1981 Apr 6;126(1):114-6. [PubMed:7238856 ]
- Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Holland RA, Tibben EA: Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia. Hemoglobin. 1989;13(5):437-53. [PubMed:2599880 ]
- Harano T, Harano K, Kushida Y, Ueda S: A new abnormal variant, Hb Yahata or beta 112(G14)Cys----Tyr, found in a Japanese: structural confirmation by DNA sequencing of the beta-globin gene. Hemoglobin. 1991;15(1-2):109-13. [PubMed:1917530 ]
- Nakatsuji T, Miwa S, Ohba Y, Hattori Y, Miyaji T, Hino S, Matsumoto N: A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia. Hemoglobin. 1981;5(7-8):667-78. [PubMed:7338469 ]
- Rahbar S, Feagler RJ, Beutler E: Hemoglobin Hammersmith (beta 42 (CD1) Phe replaced by Ser) associated with severe hemolytic anemia. Hemoglobin. 1981;5(1):97-105. [PubMed:6259091 ]
- Blouquit Y, Bardakdjian J, Lena-Russo D, Arous N, Perrimond H, Orsini A, Rosa J, Galacteros F: Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. Hemoglobin. 1989;13(5):465-74. [PubMed:2599881 ]
- Plaseska D, Wilson JB, Gu LH, Kutlar F, Huisman TH, Zeng YT, Shen M: Hb Zengcheng or alpha 2 beta(2)114(G16)Leu----Met. Hemoglobin. 1990;14(5):555-7. [PubMed:2079435 ]
- Fay KC, Brennan SO, Costello JM, Potter HC, Williamson DA, Trent RJ, Ockelford PA, Boswell DR: Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia. Br J Haematol. 1993 Oct;85(2):352-5. [PubMed:8280608 ]
- Rees DC, Rochette J, Schofield C, Green B, Morris M, Parker NE, Sasaki H, Tanaka A, Ohba Y, Clegg JB: A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp). Blood. 1996 Jul 1;88(1):341-8. [PubMed:8704193 ]
- Deutsch S, Darbellay R, Offord R, Frutiger A, Kister J, Wajcman H, Beris P: Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders. Am J Hematol. 1999 Jul;61(3):187-93. [PubMed:10398311 ]
- Carbone V, Salzano AM, Pagano L, Buffardi S, De Rosa C, Pucci P: Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy. Hemoglobin. 2001 Feb;25(1):67-78. [PubMed:11300351 ]
- North ML, Duwig I, Riou J, Prome D, Yapo AP, Kister J, Bardakdjian-Michau J, Cazenave JP, Wajcman H: Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman. Hemoglobin. 2001 Feb;25(1):107-10. [PubMed:11300344 ]
- Brennan SO, Potter HC, Kubala LM, Carnoutsos SA, Ferguson MM: Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant. Hemoglobin. 2002 Feb;26(1):67-9. [PubMed:11939514 ]
- Sawangareetrakul P, Svasti S, Yodsowon B, Winichagoon P, Srisomsap C, Svasti J, Fucharoen S: Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. Hemoglobin. 2002 May;26(2):191-6. [PubMed:12144064 ]
- Villegas A, Ropero P, Nogales A, Gonzalez FA, Mateo M, Mazo E, Rodrigo E, Arias M: Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient. Hemoglobin. 2003 Feb;27(1):31-5. [PubMed:12603091 ]
- Wajcman H, Bardakdjian-Michau J, Riou J, Prehu C, Kister J, Baudin-Creuza V, Prome D, Richelme-David S, Harousseau JL, Galacteros F: Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu]. Hemoglobin. 2003 Aug;27(3):191-9. [PubMed:12908805 ]
- Flatz G, Sanguansermsri T, Sengchanh S, Horst D, Horst J: The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. Hemoglobin. 2004 Aug;28(3):197-204. [PubMed:15481886 ]
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