Characterization of a new alpha-thalassemia-1 mutation in a Spanish family

A Villegas; J Sanchez; P Ricard; F A Gonzalez; E Del Potro; B Armada; D L Carreno; D Espinos

doi:10.3109/03630269409014143

Characterization of a new alpha-thalassemia-1 mutation in a Spanish family

Hemoglobin. 1994 Jan;18(1):29-37. doi: 10.3109/03630269409014143.

Authors

A Villegas¹, J Sanchez, P Ricard, F A Gonzalez, E Del Potro, B Armada, D L Carreno, D Espinos

Affiliation

¹ Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.

PMID: 7910813
DOI: 10.3109/03630269409014143

Abstract

A novel alpha-thalassemia-1 deletion of 14-15.4 kb that removes the alpha-2, alpha-1, theta-1 genes and pseudo-alpha-1 genes, has been detected in a father and 2 of his children from northern Spain.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Blotting, Southern
Child
Chromosomes, Human, Pair 16*
Female
Gene Deletion*
Gene Frequency
Globins / genetics*
Heterozygote
Humans
Male
Mutation*
Polymorphism, Restriction Fragment Length
Prevalence
Pseudogenes
Spain / epidemiology
alpha-Thalassemia / epidemiology
alpha-Thalassemia / genetics*

Substances

Globins