SPECTRIN ANASTASIA (ALPHA(I/78)) - A NEW SPECTRIN VARIANT (ALPHA-45 ARG-]THR) WITH MODERATE ELLIPTOCYTOGENIC POTENTIAL

被引：0

作者：

PERROTTA, S

IOLASCON, A

DEANGELIS, F

PAGANO, L

COLONNA, G

CUTILLO, S

DELGIUDICE, EM

机构：

[1] OSPED ANTONIO CARDARELLI,SERV MICROCITEMIE ANTONELLA MASTROBUONI,NAPLES,ITALY

[2] UNIV NAPLES 2,DEPT BIOCHEM & BIOPHYS,I-80138 NAPLES,ITALY

[3] UNIV BARI,DEPT PAEDIAT,BARI,ITALY

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1995年 / 89卷 / 04期

关键词：

HEREDITARY ELLIPTOCYTOSIS; SPECTRIN ALPHA-CHAIN; MUTATION;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of alpha(I/798) peptide in spectrin digest. Clinical phenotype varied among the family members ranging from asymptomatic to mild haemolytic HE. The original mutation responsible is a G-C substitution of the spectrin alpha-gene: alpha 45 Arg-->Thr (AGG-->ACG). The corresponding spectrin is designated spectrin Anastasia. Utilizing a secondary structure predictive method we suggest that this mutation has a poor capability to induce conformational changes of the tetramerization site and thus shows a moderate elliptocytogenic potential.

引用

页码：933 / 936

页数：4