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Hemoglobin
international journal for hemoglobin research
Volume 21, 1997 - Issue 3
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Original Article

Hb T-Cambodia, a β Chain Variant with the Mutations of Hb E and Hb D-Punjab, Confirmed by DNA Analysis

P. J. Hutt Department of Laboratory Medicine, Pathology Mayo Clinic, Rochester, MN, 55905, USA
,
V. F. Fairbanks Department of Laboratory Medicine, Pathology Mayo Clinic, Rochester, MN, 55905, USA
,
S. N. Thibodeau Department of Laboratory Medicine, Pathology Mayo Clinic, Rochester, MN, 55905, USA
,
M. M. Green Department of Laboratory Medicine, Pathology Mayo Clinic, Rochester, MN, 55905, USA
,
J. D. Hoyer Department of Laboratory Medicine, Pathology Mayo Clinic, Rochester, MN, 55905, USA
,
S. H. Block Providence Ambulatory Health Care Foundation Inc. Brown University School of Medicine, Providence, RI, 02906-4490, USA
,
C. Day Providence Ambulatory Health Care Foundation Inc. Brown University School of Medicine, Providence, RI, 02906-4490, USA
,
R. T. Jones Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, OR, 92701-3098, USA
&
R. C. Barwick Laboratory Corporation of America, Burlington, NC, 27216-2230, USA
 show all
Pages 205-218 | Received 23 Jul 1996, Accepted 04 Feb 1997, Published online: 07 Jul 2009

Citations (22)

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Chattree Hantaweepant, Bhoom Suktitipat, Manop Pithukpakorn, Yingyong Chinthammitr, Chanin Limwongse, Nawaporn Tansiri, Surasak Sawatnatee, Chayamon Takpradit, Wannaphorn Rotchanapanya, Saranya Pongudom, Kanyaporn Charoenprasert, Kittiphong Paiboonsukwong, Wichuda Thamprasert, Narumol Nolwachai, Wanlapa Rattanasawat, Busakorn Sae-Aeng, Nisachon Khorwanichakij, Putchong Saetow, Supawee Saengboon, Krittichat Kamjornpreecha, Wikanda Pholmoo, Boonyanuch Dujjawan & Noppadol Siritanaratkul. (2023) Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia. Hematology 28:1.
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Surada Satthakarn, Sasis Boonmee & Sitthichai Panyasai. (2020) Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant. Hemoglobin 44:6, pages 385-390.
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Paloma Ropero, Guillermo Martín-Nuñez, F.A. González, Ana Villegas, Félix de la Fuente-Gonzalo, Jorge Martínez-Nieto, Lara Vinuesa & Joaquín Díaz-Mediavilla. (2011) Hb Extremadura [β64(E8)Gly→Ser;β133(H11)Val→Leu]: A New Molecular Analysis. Hemoglobin 35:4, pages 423-427.
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Upendra Srinivas, H. P. Pati & Renu Saxena. (2010) Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography. Hematology 15:3, pages 178-181.
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Ayako Miyazaki, Toyofumi Nakanishi, Akira Shimizu, Miki Mizobuchi, Yasuhiro Yamada & Kiyohiro Imai. (2005) Hb Kochi [β141(H19)Leu→Val (g.1404 C→G); 144–146(HC1-3)Lys-Tyr-His→0 (g.1413 A→T)]: A New Variant with Increased Oxygen Affinity. Hemoglobin 29:1, pages 1-10.
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Ayako Miyazaki, Toyofumi Nakanishi, Akira Shimizu, Kenichi Ninomiya, Satoshi Nishimura & Kiyohiro Imai. (2003) Hb Buzen [β138(H16)Ala→Thr (g.1395 G→A)]: A New β Chain Variant. Hemoglobin 27:4, pages 243-247.
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James D. Hoyer, John Weinhold, Elisabeth Mailhot, David Alter, Daniel J. McCormick, Karen Snow, Kathleen S. Kubik, Michael W. Holmes & Virgil F. Fairbanks. (2003) Three New Hemoglobin Variants with Abnormal Oxygen Affinity: Hb Saratoga Springs [α40(C5)Lys→Asn (α1)], Hb Santa Clara [β97(FG4)His→Asn], and Hb Sparta [β103(G5)Phe→Val]. Hemoglobin 27:4, pages 235-241.
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James D. Hoyer, Eric Rachut, Kathleen S. Kubik, Richard T. Jones, George R. Honig, Loyda N. Vida & Virgil F. Fairbanks. (2002) Hb RAMPA [α95(G2)Pro→Ser (α2)] IN A FAMILY OF EUROPEAN ANCESTRY: DNA ANALYSIS CONFIRMS THE CG→ CG MUTATION AT CODON 95 OF THE α2-GLOBIN GENE; CLINICAL AND LABORATORY FEATURES. Hemoglobin 26:4, pages 397-403.
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James D. Hoyer, Daniel J. McCormick, Karen Snow, Kathleen S. Kubik, Michael W. Holmes, D. Brian Dawson, Ruth Shaber, Mark Marner, Jennifer Hosmer, Nancy Shinno & Virgil F. Fairbanks. (2002) FOUR NEW β CHAIN HEMOGLOBIN VARIANTS WITHOUT CLINICAL OR HEMATOLOGICAL EFFECTS: Hb SAN BRUNO [β39(C5)Gln→His]; Hb FORT DODGE [β93(F9)Cys→Tyr]; Hb RHODE ISLAND [β116(G18)His→Tyr]; AND Hb INGLEWOOD [β142(H20)Ala→Thr]. Hemoglobin 26:3, pages 299-303.
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James D. Hoyer, Daniel J. McCormick, Karen Snow, Jack Lawler, Melissa Jadick, Renee Grageda, James L. Early, Carol Ball, Paula Skarda, Kathleen S. Kubik, Michael W. Holmes & Virgil F. Fairbanks. (2002) THREE NEW VARIANTS OF THE α1-GLOBIN GENE WITHOUT CLINICAL OR HEMATOLOGIC EFFECTS: Hb HAGERSTOWN [α44(CE2)Pro→Ala (α1)]; Hb BUFFALO [α89(FG1)His→Gln (α1)], A HEMOGLOBIN VARIANT FROM SOMALIA AND YEMEN; Hb WICHITA [α95(G2)Pro→Gln (α1)]; AND A SECOND, UNRELATED, CASE OF Hb ROUBAIX [α55(E4)Val→Leu (α1)]. Hemoglobin 26:3, pages 291-298.
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James D. Hoyer, Daniel J. McCormick, Karen Snow, Jong H. Kwon, David Booth, Manuel Duarte, Guy Grayson, Kathleen S. Kubik, Michael W. Holmes & Virgil F. Fairbanks. (2002) FOUR NEW VARIANTS OF THE α2-GLOBIN GENE WITHOUT CLINICAL OR HEMATOLOGIC EFFECTS: Hb PARK RIDGE [α9(A7)Asn→Lys (α2)], Hb NORTON [α72(EF1)His→Asp (α2)], HbLOMBARD [α103(G10)His→Tyr (α2)], AND Hb SAN ANTONIO [α113(GH2)Leu→Arg (α2)]. Hemoglobin 26:2, pages 175-180.
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Roshan Colah, Maharukh Wadia, Reema Surve, Anita Nadkarni, Supriya Phanasgaonkar, Ajit Gorakshakar, Dipika Mohanty, Danielle Promé & Henri Wajcman. (2001) Hb D-AGRI [β9(A6)Ser Tyr;β121(GH4)Glu Gln]: A NEW INDIAN HEMOGLOBIN VARIANT WITH TWO AMINO ACID SUBSTITUTIONS IN THE SAME β CHAIN. Hemoglobin 25:3, pages 317-321.
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T. Nakanishi, A. Miyazaki, M. Kishikawa, A. Shimizu, O. Kishida, S. Sumi, T. Tsubakio & K. Imai. (1998) A New Hemoglobin Variant Found During Hb A1c Measurement: Hb Hokusetsu [β52(D3)Asp→Gly]. Hemoglobin 22:4, pages 355-371.
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M. F. H. Carver & T. H. J. Huisman. (1997) International Hemoglobin Information Center Variant List. Hemoglobin 21:6, pages 505-506.
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Articles from other publishers (8)

Kritsada Singha, Goonnapa Fucharoen & Supan Fucharoen. (2019) Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome. Journal of Clinical Pathology 72:4, pages 322-324.
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Kamran Moradkhani, Jean Riou & Henri Wajcman. (2013) Pitfalls in the genetic diagnosis of Hb S. Clinical Biochemistry 46:4-5, pages 291-299.
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Mami NakamuraAyako MiyazakiTakayuki TakuboYoko MatsuzawaJun SaitoMasao OmuraTetsuo Nishikawa. (2011) Identification of the First Japanese Family Harboring a Novel Hemoglobin Variant “Perpignan”, Which Caused Low HbA 1c Measurement During Diabetic Follow-Up . Japanese Clinical Medicine 2, pages JCM.S5971.
Crossref
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. WeatherallSuthat Fucharoen & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 417 434 .
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 321 322 .
Gen Kano, Akira Morimoto, Shigeyoshi Hibi, Chika Tokuda, Shinjiro Todo, Tohru Sugimoto, Teruo Harano, Ayako Miyazaki, Akira Shimizu & Shinsaku Imashuku. (2004) Hb Bristol-Alesha Presenting Thalassemia-Type Hyperunstable Hemoglobinopathy. International Journal of Hematology 80:5, pages 410-415.
Crossref
A. Miyazaki, T. Nakanishi, A. Shimizu & H. Hisamitsu. (2003) First case of a single heterozygote of an abnormal hemoglobin, Hb Stanmore, [β111(G13)Val→Ala]. Journal of Chromatography B 792:1, pages 23-31.
Crossref
Goonnapa Fucharoen, Warunee Tungwiwat, Thawalwong Ratanasiri, Kanokwan Sanchaisuriya & Supan Fucharoen. (2003) Prenatal detection of fetal hemoglobin E gene from maternal plasma. Prenatal Diagnosis 23:5, pages 393-396.
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