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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 3
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Short Communication

Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant

Antonio Amato Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, ItaliaCorrespondence[email protected]
,
Maria Pia Cappabianca Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
,
Donatella Ponzini Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
,
Silvana Rinaldi Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
,
Paola Di Biagio Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
,
Enrica Foglietta Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
,
Paola Grisanti Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
&
Fabrizio Mastropietro Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia
 show all
Pages 375-378 | Received 05 Jun 2006, Accepted 13 Dec 2006, Published online: 07 Jul 2009
 
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Abstract

A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α/β-globin chain biosynthesis ratios.

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