Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 4
169
Views
16
CrossRef citations to date
0
Altmetric
Original

A Rare Thalassemic Syndrome Caused by Interaction of Hb Adana [α59(E8)Gly→Asp] with an α+-Thalassemia Deletion: Clinical Aspects in Two Cases

, , , , , , , & show all
Pages 361-369 | Received 15 Oct 2007, Accepted 21 Dec 2007, Published online: 07 Jul 2009

REFERENCES

  • Adams JG, Coleman MB. Structural hemoglobin variants that produce the phenotype of thalassemia. Semin Hematol 1990; 27: 229–238
  • Higgs DR. α Thalassaemia. The Haemoglobinopathies. Bailliere's Clinical Haematology, DR Higgs, DJ Weatherall. W.B. Saunders Company, London 1993; 6: 117–150
  • Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A, Vrettou C, Stamoulakatou A, Kanavakis E. Distinct phenotypic expression associated with a new hyperunstable α globin variant (Hb Heraklion, α1cd37(C2)Pro→0): comparison to other α-thalassemic hemoglobinopathies. Blood Cells Mol Dis 2000; 26(4)276–284
  • Huisman THJ, Carver MFH. The thalassemia repository (ninth edition; part II). Hemoglobin 1998; 22(3)287–310
  • Wajcman H, Vasseur C, Blouquit Y, Rosa J, Labie D, Najman A, Reman O, Leporrier M, Galacteros F. Unstable α-chain hemoglobin variants with factitious β-thalassemia biosynthetic ratio: Hb Questembert (α113[H14]Ser→Pro) and Hb Caen (α132[H15]Val→Gly). Am J Hematol 1993; 42(4)367–374
  • Traeger-Synodinos J, Kanavakis E, Tzetis M, Kattamis A, Kattamis C. Characterization of nondeletion α-thalassemia mutations in the Greek population. Am J Hematol 1993; 44(3)162–167
  • Curuk MA, Dimovski AJ, Baysal E, Gu L-H, Kutlar F, Molchanova TP, Webber BB, Altay C, Gurgey A, Huisman THJ. Hb Adana or α259(E8)Gly→Aspβ2, a severely unstable α1-globin variant, observed in combination with the –(α)20.5 kb α-thal-1 deletion in two Turkish patients. Am J Hematol 1993; 44(4)270–275
  • Chan V, Chan W-Y, Tang M, Lau K, Todd D, Chan TK. Molecular defects in Hb H hydrops fetalis. Br J Haematol 1997; 96(2)224–228
  • Traeger-Synodinos J, Metaxotou-Mavrommati A, Karagiorga M, Vrettou C, Papassotiriou I, Stamoulakatou A, Kanavakis E. Interaction of an α-thalassemia deletion with either a highly unstable α-globin variant (α2, codon 59, GGC→GAC) or a nondeletional α-thalassemia mutation (AATAAA→AATAAG): comparison of phenotypes illustrating dominant α-thalassemia. Hemoglobin 1999; 23(4)325–337
  • Papassotiriou I, Traeger-Synodinos J, Vlachou C, Karagiorga M, Metaxotou A, Kanavakis E, Stamoulakatou A. Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the α-thalassemia genotype. Hemoglobin 1999; 23(3)203–211
  • Carrell RW. Methods of determining hemoglobin instability. The Hemoglobinopathies. Methods in Hematology, THJ Huisman. Churchill Livingstone, Edinburgh 1986; 15: 109–124
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3)1215
  • Dimisianos G, Traeger-Synodinos J, Vrettou C, Papassotiriou I, Kanavakis E. A rare 33 bp in-frame deletion (α63–64 or α64–74 or α65–75) in the α1-globin gene causing α+-thalassemia: a second observation. Hemoglobin 2004; 28(2)137–143
  • Kanavakis E, Papassotiriou I, Karagiorga M, Vrettou C, Metaxotou-Mavrommati A, Stamoulakatou A, Kattamis C, Traeger-Synodinos J. Phenotypic and molecular diversity of Haemoglobin H disease: a Greek experience. Br J Haematol 2000; 111(3)915–923
  • Kanavakis E, Traeger-Synodinos J, Vrettou C, Maragoudaki E, m Tzetis, Kattamis C. Prenatal diagnosis of the thalassemia syndromes by rapid DNA analytical methods. Mol Hum Reprod 1997; 3(6)523–528
  • Borgna-Pignatti C. Modern treatment of thalassaemia intermedia. Br J Haematol 2007; 138(3)291–304
  • Taher A, Isma'eel H, Cappellini MD. Thalassemia intermedia revisited. Blood Cells Mol Dis 2006; 37(1)12–20
  • Weatherall DJ. Phenotype-genotype relationship in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001; 2(4)245–255
  • O'Donnell A, Premawardhen A, Arambepola M, Allen SJ, Peto TEA, Fisher CA, Rees DC, Olivieri NF, Weatherall DJ. Age-related changes in adaptation to severe anemia in childhood in developing countries. Proc Natl Acad Sci USA 2007; 104(22)9440–9444
  • Spanos T, Karageorga M, Ladis V, Peristeri J, Hatziliami A, Kattamis C. Red cell alloantibodies in patients with thalassemia. Vox Sang 1990; 58(1)50–55
  • Rother RP, Bell L, Hillmen P, Gladwin T. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin. JAMA 2005; 293(13)1653–1662
  • Thein SL. Dominant β-thalassaemia: molecular basis and pathophysiology. Br J Haematol 1992; 80(3)273–277
  • Poyart C, Wajcman H. Hemolytic anemias due to hemoglobinopathies. Mol Aspects Med 1996; 17(2)129–142
  • Kanavakis E, Traeger-Synodinos J, Papassotiriou I, Vrettou C, Metaxotou-Mavrommati A, Stamoulakatou A, Lagona E, Kattamis C. The interaction of α0-thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy. Br J Haematol 1996; 92(2)332–335
  • Stamoulakatou A, Athenasiou-Metaxa M, Trager-Synodinos J, Lazaropoulos C, Hartevelt K, Premetis E, Tsantali H, Zorai A, Giordano P, Papassotiriou I, Kanavakis E. Rare thalassemic syndrome caused by interaction of Hb Questembert with an α-thalassemia-2 deletion: implications for diagnosis and management. Blood Cells Mol Dis 2004; 32(1)118–123
  • Prehu C, Mazurier E, Riou J, Kister J, Prome D, Richelme-David S, Al Jassem L, Angellier E, Wajcman H. A new unstable α2-globin gene variant: Hb Chartres [α33(B14)Phe→Ser]. Hemoglobin 2003; 27(2)111–114
  • Dutly F, Fehr J, Goede J, Morf M, Troxler H, Frischknecht H. A new highly unstable α chain variant causing α+-thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]. Hemoglobin 2004; 28(4)347–351
  • Dash S, Harano K, Menon S. Hb Sallanches [α104(G11)Cys→Tyr, TGC→TAC (α2)]: an unstable hemoglobin variant found in an Indian child. Hemoglobin 2006; 30(3)393–396

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:

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:

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.