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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 4
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Original Article

Symptomatic Erythrocytosis Associated with a Compound Heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu, GTG>TTG]

Susumu InoueDepartment of Pediatrics, Hurley Medical Center, Flint, Michigan, USA;Department of Pediatrics/Human Development, Michigan State University, College of Human Medicine, East Lansing, Michigan, USACorrespondence[email protected]
,
Jennifer L. OliveiraMayo Clinic, Metabolic Hematology Laboratory, Rochester, Minnesota, USA
,
James D. HoyerMayo Clinic, Metabolic Hematology Laboratory, Rochester, Minnesota, USA
&
Mahesh SharmanDepartment of Pediatrics, Hurley Medical Center, Flint, Michigan, USA;Department of Pediatrics/Human Development, Michigan State University, College of Human Medicine, East Lansing, Michigan, USA
Pages 362-370 | Received 08 Nov 2011, Accepted 08 Feb 2012, Published online: 07 May 2012

REFERENCES

  • Jones RT, Saiontz HI, Head C, Shih DT, Fairbanks VF. Hb Johnstown [β109(G11)Val→Leu]: a new electrophoretically silent variant that causes erythrocytosis. Hemoglobin. 1990;14(2):147–156.
  • Wajcman H, Galacteros F. Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. Hemoglobin. 2005;29(2):91–106.
  • Ropero P, Villegas A, Gonzalez AF, Hb Johnstown [β109(G11)Val→Leu]: second case described and associated for the first time with β0-thalassemia in two Spanish families. Am J Hematol. 2000;65(4):298–301.
  • Petrides PE, Beykirch MK, Kohne E. The high oxygen-affinity Hemoglobin Johnstown [β109(G11)Val→Leu] in a German kindred with an elevated erythrocyte hemoglobin content: potential interaction with HFE mutations. Blood Cells Mol Dis. 2008;40(2):180–182.
  • Feliu-Torres A, Eberle SE, Roldán A, González S, Sciuccati G. Hb Johnstown [β109(G11)Val→Leu]: a high oxygen affinity variant associated with β0-thalassemia. Hemoglobin. 2004;28(4):335–338.
  • González Fernández FA, Villegas A, Ropero P, Haemoglobinopathies with high oxygen affinity. Experience of Erythropathology Cooperative Spanish Group. Ann Hematol. 2009;88(3):235–238.
  • Tanphaichitr VS, Viprakasit V, Veerakul G. Homozygous Hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy. J Pediatr Hematol/Oncol. 2003:25(3):261–265.
  • Grace RJ, Gover PA, Treacher, DF, Heard SE, Pearson TC. Venesection in Haemoghlobin Yakima, a high oxygen affinity haemoglobin. Clin Lab Haematol. 1992;14(3):195–199.
  • Gaudreau PO, Weng X, Cournoyer G, Robin L, Gagnon C, Soulières D. Treatment with hydroxyurea in a patient compound heterozygote for a high oxygen affinity hemoglobin and β-thalassemia minor. Am J Hematol. 2009;84(11):766–768.
  • Butler WM, Spratling L, Kark JA. Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy. Am J Hematol. 1982;13(4):293–301.
  • Winslow RM, Butler WM, Kark JA. The effect of bloodletting on exercise performance in a subject with a high-affinity hemoglobin variant. Blood. 1983;62(6):1159–1164.
  • Länsimies E, Hyödynmaa S, Lahtinen R, Mahlamäki, Palomäki P, Rautiainen M. Exercise capacity in subjects with high oxygen affinity. Clin Physiol. 1985;(5 Suppl 3):69–73.
  • Steinberg M. Genetic disorders of hemoglobin oxygen affinity. Up-to-Date. May 18, 2011 (http://www.uptodate.com/store).
  • Hanss M, Lacan P, Aubry M, Lienhard A, Francina A. Thrombotic events in compound heterozygotes for a high affinity hemoglobin variant: Hb Milledgeville [α44(CE2)Pro→Leu (α2)] and factor V Leiden. Hemoglobin. 2002;26(3):285–290.
  • Berruyer M, Francina A, Ffrench P, Negrier C, Boneu B, Dechavanne M. Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant. Am J Hematol. 1994;46(3):214–217.
  • Percy MJ, Butt NN, Crotty GM, Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis. Haematologica. 2009;94(9):1321–1322.

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