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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
 
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Abstract

This study refers to the quantitative hemoglobin (Hb) phenotype of a 19-year-old female with Hb Valletta [β87(F3)Thr→Pro] in association with Hb Marseille/Long Island [β2(NA2)His→Pro; (–1)Met-(+1)Val-(+2)Pro-Leu] and a normal Hb electrophoretogram. The data serve to alert investigators to the possibility that relatives with apparently normal Hb phenotypes may be transmitting mutant alleles and suggest methods for identification.

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