Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype

G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent beta-thalassaemia to that of a mild beta-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a beta-thalassaemia mutation. Compound heterozygotes for the IVSII nt844 (C-->G) mutation and a severe beta-thalassaemia mutation have the phenotype of thalassaemia intermedia. This paper indicates that the presence of borderline red blood cell indices or HbA2 values should make one suspect the presence of a very mild or silent beta-thalassaemia. -->

ISSN:	1365-2141 0007-1048
DOI:	10.1111/j.1365-2141.1994.tb05074.x
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77b470a0d0103a5c87d36ed590ffed4b https://doi.org/10.1111/j.1365-2141.1994.tb05074.x
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....77b470a0d0103a5c87d36ed590ffed4b
Autor:	Antonio Cao, Anna Pomo, Maria Cristina Rosatelli, Alessandra Pischedda, Alessandra Meloni, Maurizio Travi, Luisella Saba, Silvia Fattore
Rok vydání:	1994
Předmět:	Male Heterozygote congenital hereditary and neonatal diseases and abnormalities Molecular Sequence Data Genetic Carrier Screening Biology Compound heterozygosity Loss of heterozygosity hemic and lymphatic diseases medicine Humans Gene Red blood cell indices Genetics Base Sequence medicine.diagnostic_test Homozygote beta-Thalassemia Heterozygote advantage DNA Hematology Phenotype Molecular biology Pedigree Mutation Mutation (genetic algorithm) Female
Zdroj:	Scopus-Elsevier
ISSN:	1365-2141 0007-1048
DOI:	10.1111/j.1365-2141.1994.tb05074.x
Popis:	This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent beta-thalassaemia to that of a mild beta-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a beta-thalassaemia mutation. Compound heterozygotes for the IVSII nt844 (C-->G) mutation and a severe beta-thalassaemia mutation have the phenotype of thalassaemia intermedia. This paper indicates that the presence of borderline red blood cell indices or HbA2 values should make one suspect the presence of a very mild or silent beta-thalassaemia.
Databáze:	OpenAIRE
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