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A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family
- Source :
- British journal of haematology. 78(4)
- Publication Year :
- 1991
-
Abstract
- 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 zeta and alpha probes.
- Subjects :
- Male
Adolescent
Population
Immunoblotting
Alpha (ethology)
Biology
medicine.disease_cause
hemic and lymphatic diseases
medicine
Humans
Family
Globin
Globin gene
education
Gene
Genetics
education.field_of_study
Mutation
Heterozygote advantage
Hematology
medicine.disease
Molecular biology
Globins
Hemoglobinopathy
Multigene Family
Thalassemia
Chromosome Deletion
Subjects
Details
- ISSN :
- 00071048
- Volume :
- 78
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- British journal of haematology
- Accession number :
- edsair.doi.dedup.....91fc7a2d8a0f035830b6e18c8fdbcb0f