Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, G G C→G A C] Co-Inherited With a β + -Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family.

Autor:	Papassotiriou, Ioannis, Stamoulakatou, Alexandra, Wajcman, Henri, Kister, Jean, Dimisianos, Gerasimos, Lazaropoulou, Christina, Kanavaki, Ino, Vavourakis, Efstathios, Kattamis, Antonios, Kanavakis, Emmanuel, Traeger-Synodinos, Joanne
Předmět:	THALASSEMIA HEMOGLOBINS GENETIC mutation DNA HEMATOLOGY
Zdroj:	Hemoglobin; Nov2006, Vol. 30 Issue 4, p409-418, 10p
Abstrakt:	We report clinical, hematological, biochemical, functional and molecular studies carried out on two first cousins from a Greek-Albanian family who have clinical and hematological findings consistent with the diagnosis of thalassemia intermedia. DNA studies determined that they had co‐inherited a common Mediterranean β-thalassemia (thal) mutation, IVS-I-110 (G→A), in trans to a β-globin gene mutation at codon 107 (G G C→G A C), predicted to give rise to a rare unstable β chain variant Hb Lulu Island or β107(G9)Gly→Asp. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.