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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 2
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Short Communication

Hb Valletta [β87(F3)Thr→Pro] and Hb Marseille/Long Island [β2(NA2)His→Pro; (–1)Met-(+1)Val-(+2)Pro-Leu], in a Unique Compound Heterozygote with a Normal Hemoglobin Phenotype

Ruth Galdies Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta; Thalassaemia Clinic, Division of Pathology, Mater Dei Hospital Tal-Qroqq, Msida, MaltaCorrespondence[email protected]
,
Wilhelmina Cassar Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta; Thalassaemia Clinic, Division of Pathology, Mater Dei Hospital Tal-Qroqq, Msida, Malta
,
Monica Pizzuto Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta; Thalassaemia Clinic, Division of Pathology, Mater Dei Hospital Tal-Qroqq, Msida, Malta
,
Christian A. Scerri Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta; Thalassaemia Clinic, Division of Pathology, Mater Dei Hospital Tal-Qroqq, Msida, Malta
,
Nicholas Felice Department of Obstetrics and Gynaecology, Mater Dei Hospital, Tal-Qroqq, Msida, Malta
,
Olivianne A. Cassar Department of Obstetrics and Gynaecology, Mater Dei Hospital, Tal-Qroqq, Msida, Malta
,
George Buttigieg Department of Obstetrics and Gynaecology, Mater Dei Hospital, Tal-Qroqq, Msida, Malta
&
Alex E. Felice Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta; Thalassaemia Clinic, Division of Pathology, Mater Dei Hospital Tal-Qroqq, Msida, Malta
 show all
Pages 169-174 | Received 23 Aug 2009, Accepted 21 Dec 2009, Published online: 30 Mar 2010

REFERENCES

  • Felice AE, Grech JL, Bannister WH, Kutlar F, Wilson JB, Huisman THJ. Hb Valletta and Hb F-Malta-I are in linkage in the Maltese population. Blood. 1989;76(Suppl 1):5.
  • Kutlar F, Felice AE, Grech JL, Bannister WH, Kutlar A, Wilson JB, Webber BB, Hu H, Huisman THJ. The linkage of Hb Valletta [α2β287(F3)Thr→Pro] and Hb F-Malta-I [α2Gγ2 117(G19)His→Arg] in the Maltese population. Hum Genet. 1991;86(6):591–594.
  • Blouquit Y, Arous N, Lena D, Hb Marseille [α2β2 N methionyl-2 (NA2) His→Pro]: a new β chain variant having an extended N-terminus. FEBS Lett. 1984;178(2):315–318.
  • Prchal JT, Cashman DP, Kan YW. Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. Proc Natl Acad Sci USA. 1986;83(1):24–27.
  • Cauchi MN, Clegg J B, Weatherall D J. Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants. Nature. 1969;223(5203):311–313.
  • Felice AE, Borg J, Pizzuto M, A review of cis-trans interplay between DNA sequences 5′ to the Gγ- and β-globin genes among Hb F-Malta-I heterozygotes/homozygotes and β-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials. Hemoglobin. 2007;31(2):279–288.
  • Ithanet Portal. The Haemoglobinopathy Community Portal. 2006. (http://www.ithanet.eu/mutation/LabProtocols.aspx)
  • Pulis S, Scerri CA, Wismayer PS, Galdies R, Bezzina-Wettinger S, Felice AE. Developmental effect of the XmnI site on Gγ-globin gene expression among newborn Hb F-Malta-I [Gγ117(G19)His→Arg, CAT→CGT] heterozygotes and adult β+-thalassemia homozygotes. Hemoglobin. 2007;31(1):71–82.
  • Giardine B, Van Baal S, Kaimakis P, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206. (http://globin.bx.psu.edu/globin/hbvar/).
  • Schnedel WJ, Lahousen T, Wallner SJ, Krause R, Lipp RW. Silent hemoglobin variants and determination of HbA(1c) with the high resolution program of the HPLC HA-8160 hemoglobin analyzer. Clini Biochem. 2005;38(1):88–91.
  • Kleinert P, Schmid M, Zurbriggen K, Mass spectrometry; a tool for enhanced detection of hemoglobin variants. Clin Chem. 2008;54(1):69–76.

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