Advanced search
Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 1
Submit an article Journal homepage
31
Views
5
CrossRef citations to date
0
Altmetric
Original Article

Hb Zoeterwoude [β23(B5)Val → Ala)]: A New β-Globin Variant Found in Association with Erythrocytosis

Cornelis L Harteveld The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Wassenaarseweg 72, Leiden, 2333 AL, The Netherlands; The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Wassenaarseweg 72, Leiden, 2333 AL, The Netherlands
, Ph.D.,
J.H Marc Groeneveld Department of General Internal Medicine, Leiden University Medical Center (LUMC), Leiden, The Netherlands
,
Bastiaan van Dam Department of General Internal Medicine, Leiden University Medical Center (LUMC), Leiden, The Netherlands
,
Peter Van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Wassenaarseweg 72, Leiden, 2333 AL, The Netherlands
,
Nicole Akkerman The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Wassenaarseweg 72, Leiden, 2333 AL, The Netherlands
,
Sandra Arkesteijn The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Wassenaarseweg 72, Leiden, 2333 AL, The Netherlands
&
Piero C. Giordano The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Wassenaarseweg 72, Leiden, 2333 AL, The Netherlands
 show all
Pages 11-17 | Received 13 Sep 2004, Accepted 01 Nov 2004, Published online: 07 Jul 2009

References

  • Prchal J T. Primary polycythemias. Curr Opin Hematol 1995; 2(2):146–152. [PUBMED], [INFOTRIEVE], [CSA]
  • Kralovics R, Prchal J T. Congenital and inherited polycythemia. Curr Opin Pediatr 2000; 12(1):29–34. [PUBMED], [INFOTRIEVE], [CSA], [CROSSREF]
  • Galacteros T, Rosa R, Prehu M, Najean Y, Calvin M. Deficit en diphosphoglycerate mutase: nouveaux cas associes a une polyglobulie. Nouv Rev Fr Haematol 1984; 26(2):69–74. [CSA]
  • Sergeyeva A, Gordeuk V, Tokarev Y, Prchal J F, Sokol L, Prchal J T. Congenital polycythemia in chuvashia. Blood 1993; 89(6):2148–2154. [CSA]
  • Giordano P C, Harteveld C L, Brand A, Willems L N, Kluin-Nelemans H C, Plug R J, Batelaan D N, Bernini L F. Hb Malmo [β97(FG-4)His → Gln] leading to polycythemia in a Dutch family. Ann Hematol 1996; 73(4):183–188. [PUBMED], [INFOTRIEVE], [CSA], [CROSSREF]
  • Berlin G, Wranne B, Jeppsson J O. Hb Linkoping (β36 Pro → Thr): a new high oxygen affinity hemoglobin variant found in two families of finnish origin. Eur J Haematol 1987; 39(5):452–456. [PUBMED], [INFOTRIEVE]
  • Giordano P C, Van Delft P, Batelaan D, Harteveld C L, Bernini L F. Haemoglobinopathy analyses in The Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method. Clin Lab Haematol 1999; 21(4):247–256. [PUBMED], [INFOTRIEVE], [CSA], [CROSSREF]
  • Liu Y T, Old J M, Miles K, Fisher C A, Weatherall D J, Clegg J B. Rapid detection of α-thalassaemia deletions and α-globin gene triplications by multiplex polymerase chain reaction. Br J Haematol 2000; 108(2):295–299. [PUBMED], [INFOTRIEVE], [CSA], [CROSSREF]
  • Giordano P C, Harteveld C L, Michiels J J, Terpstra W, Schelfhout L JDM, Appel J M, Batelaan D, van Delft P, Plug R J, Bernini L F. Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G → T) mutation. Ann Hematol 1998; 77:249–255., [PUBMED], [INFOTRIEVE], [CSA], [CROSSREF]
  • Huisman T HJ, Carver M FH, Efremov G D. A Syllabus of Human Hemoglobin Variants. (Second Edition). Augusta: The Sickle Cell Anemia Foundation, 1998, ( http://globin.cse.psu.edu).
  • Garel M C, Blouquit Y, Arous N, Rosa J. Hb Strasbourg α2β2(B2)Val → Asp: a variant at the same locus as Hb Olympia β20 Val → Met. FEBS Lett 1976; 72(1):1–4. [PUBMED], [INFOTRIEVE], [CROSSREF]
  • Nakatsuji T, Miwa S, Ohba Y, Hattori Y, Miyaji T, Miyata H, Shinohara T, Hori T, Takayama J. Hb Miyashiro [β23(B5)Val → Gly]: an electrophoretically silent variant discovered by the isopropanol test. Hemoglobin 1981; 5(7–8):653–666. [PUBMED], [INFOTRIEVE]
  • Williamson D, Whisson M E, Whineray M, Wells R M, Brennan S O, Carrell R W. Polycythaemia associated with a new haemoglobin variant: Haemoglobin Palmerston North β23(B5)Val → Phe. N Z Med J 1985; 98(783):585–587. [PUBMED], [INFOTRIEVE]
  • Stamatoyannopoulos G, Bellingham A J, Lenfant C, Finch C A. Abnormal hemoglobins with high and low oxygen affinity. Annu Rev Med 1971; 22:221–234. [PUBMED], [INFOTRIEVE], [CROSSREF]
  • Wade J P, du Boulay G H, Marshall J, Pearson T C, Russell R W, Shirley J A, Symon L, Wetherley-Mein G, Zilkha E. Cerebral blood flow, haematocrit and viscosity in subjects with a high oxygen affinity haemoglobin variant. Acta Neurol Scand 1980; 61(4):210–215. [PUBMED], [INFOTRIEVE]
  • Girino M, Riccardi A, Mosca A, Paleari R, Bonomo P. Double heterozygosity for Hemoglobin Malmo [β97(FG4)His → Gln] and β-thalassemia traits. Haematologica 1989; 74(2):187–190. [PUBMED], [INFOTRIEVE]
  • Maniatis A, Bousios T, Nagel R L, Balazs T, Ueda Y, Bookchin R M, Maniatis G M. Hemoglobin Crete (β129 Ala → Pro): a new high-affinity variant interacting with β0- and δβ0-thalassemia. Blood 1979; 54(1):54–63. [PUBMED], [INFOTRIEVE]
  • Loukopoulos D, Poyart C, Delanoe-Garin J, Matsis C, Arous N, Kister J, Loutradi-Anagnostou A, Blouquit Y, Fessas P, Thillet J. Hemoglobin San Diego/β0-thalassemia in a Greek adult. Hemoglobin 1986; 10(2):143–159. [PUBMED], [INFOTRIEVE]
  • Pagano L, Salzano A M, Carbone V, Iannelli D, Viola A, Pollio F, Prossomariti L, David O, Ricco G, Pucci P. Hb Cardarelli [β86(F2)Ala → Pro]: a new unstable and hyperaffine variant in association with β+-thalassemia. Hemoglobin 2004; 28(2):103–115. [PUBMED], [INFOTRIEVE], [CROSSREF]
  • Rochette J, Barnetson R, Kiger L, Kister J, Littlewood T J, Webster R, Poyart C, Thein S L. Association of a novel high oxygen affinity haemoglobin variant with δβ thalassaemia. Br J Haematol 1994; 86(1):118–124. [PUBMED], [INFOTRIEVE], [CSA]
  • Giordano P C, Breuning M. Van gen naar ziekte; van hemoglobinegene naar thalassemie en sikkelcelanemie (From gene to disease; from hemoglobin genes to thalassemia and sickle cell anemia). Ned Tijdschr Geneeskd 2000; 144(40):1910–1913. [PUBMED], [INFOTRIEVE], [CSA]

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.