Hb Tigraye [β79(EF3)Asp→His] in a Caucasian family from Sardinia

Pistidda, Paola Matilde and Cherchi, Laura and Corda, Marcella and Guiso, Luciana and Pardini, Simonetta and Pirastru, Monica and Manca, Laura and Longinotti, Maurizio Roberto and Masala, Bruno Lucio (2001) Hb Tigraye [β79(EF3)Asp→His] in a Caucasian family from Sardinia. Hemoglobin, Vol. 25 (3), p. 341-345. eISSN 1532-432X. Article.

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DOI: 10.1081/HEM-100105229

Abstract

We describe here the occurrence of the Hb Tigraye, or beta79(EF3)Asp→His, first discovered in a healthy male of Ethiopian descent, in four members of a Sardinian family, two adults and two newborns, providing additional biochemical and molecular data. Sequencing of the beta globin gene showed the presence of the GAC→CAC mutation at the level of codon 79.

Item Type:	Article
ID Code:	3063
Status:	Published
Refereed:	Yes
Uncontrolled Keywords:	Hb Tigraye, GAC→CAC mutation, Sardinia
Subjects:	Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:	001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari 001 Università di Sassari > 03 Istituti > Ematologia
Publisher:	Taylor & Francis
eISSN:	1532-432X
Deposited On:	28 Sep 2009 19:00

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