Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]:: A novel thalassemic hemoglobin variant

被引：2

作者：

Amato, Antonio ^{[1
]}

Cappabianca, Maria Pia ^{[1
]}

Ponzini, Donatella ^{[1
]}

Rinaldi, Silvana ^{[1
]}

Di Biagio, Paola ^{[1
]}

Foglietta, Enrica ^{[1
]}

Grisanti, Paola ^{[1
]}

Mastropietro, Fabrizio ^{[1
]}

机构：

[1] ANMI ONLUS, Ctr Studi Microcitemie Roma, I-00159 Rome, Italy

来源：

HEMOGLOBIN | 2007年 / 31卷 / 03期

关键词：

hemoglobin (Hb) variants; beta-thalassemia (thal); splicing region;

D O I：

10.1080/03630260701462055

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A new,beta-globin variant at codon 106 (CTC -> GTG), and which we named Hb L'Aquila [0106(G8)Leu -> Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.

引用

页码：375 / 378

页数：4

共 5 条

[1]

COLEMAN MB, 1991, J BIOL CHEM, V266, P5798

[2] HbVar.: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server [J].

Hardison, RC ;

Chui, DHK ;

Giardine, B ;

Riemer, C ;

Patrinos, GP ;

Anagnou, N ;

Miller, W ;

Wajcman, H .

HUMAN MUTATION, 2002, 19 (03) :225-233

[3] HEMOGLOBIN SOUTHAMPTON (CASPER) - CHARACTERIZATION OF THE BASE MUTATION [J].

HEINTZ, NH ;

HOWARD, PL .

AMERICAN JOURNAL OF HEMATOLOGY, 1989, 30 (01) :1-3

[4] HB TUBINGEN [ALPHA(2)BETA(2)106(G8)LEU-]GLN] IN A BELGIAN FAMILY [J].

PHILIPPE, M ;

LARONDELLE, Y ;

VAERMAN, JL ;

MARTIAT, P ;

GALACTEROS, F ;

WAJCMAN, H ;

LAMBERT, M .

HEMOGLOBIN, 1993, 17 (04) :373-378

[5]

Weatherall DJ, 2001, THALASSAEMIA SYNDROM

← 1 →