A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY

被引：18

作者：

FORTINA, P

DIANZANI, I

SERRA, A

GOTTARDI, E

SAGLIO, G

FARINASSO, L

PIGA, A

GABUTTI, V

CAMASCHELLA, C

机构：

[1] UNIV TURIN,DIPARTIMENTO SCI BIOMED & ONCOL UMANA,MED CLIN A,VIA GENOVA 3,I-10126 TURIN,ITALY

[2] UNIV TURIN,IST CLIN PEDIAT,I-10126 TURIN,ITALY

[3] CNR,CTR IMMUNOGENET & ISTOCOMPATIBILITA,TURIN,ITALY

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1991年 / 78卷 / 04期

关键词：

D O I：

10.1111/j.1365-2141.1991.tb04483.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a new deletional form of alpha-thalassaemia which encompasses the entire alpha-like globin gene cluster in a 15-year-old boy of Southern Italian descent. The deletion removes approximately 31 kb, the 5'-end point is located approximately 4 kb upstream of the xi-gene, while the 3'-end point maps between the alpha-1- and theta-1-globin genes. The interaction of this deletion with the common-alpha-3.7 form gives origin to a classical form of haemoglobin (Hb) H disease in the propositus of this study. Deletional forms of xi-alpha-thalassaemia are uncommon in the Mediterranean basin; as for other unusual xi-alpha-thalassaemia forms, heterozygotes for this mutation may escape detection in population surveys based on xi and alpha-probes.

引用

页码：529 / 534

页数：6

共 29 条

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DIRIENZO A, 1986, AM J HUM GENET, V39, P631

[3]

FELICE AE, 1984, BLOOD, V63, P1253

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