A novel mechanism for thalassaemia intermedia.
Thalassaemia intermedia is a moderate form of thalassaemia resulting from various genetic defects. We report an undescribed mechanism leading to this condition: a somatic deletion of the beta-globin gene in the haemopoietic lineage of a heterozygous beta-thalassaemic patient. We did molecular studies and haemoglobin analysis of the patient and his parents. We found that the deletion gives rise to a mosaic of cells with either one or no functional beta-globin gene and it extends to a region of frequent loss of heterozygosity called LOH11A, which is located close to the beta-globin locus. Thus, loss of heterozygosity can be a cause of non-malignant genetic disease.
Badens
C
C
Mattei
M G
MG
Imbert
A M
AM
Lapouméroulie
C
C
Martini
N
N
Michel
G
G
Lena-Russo
D
D
D000740:Anemia / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D017353:Gene Deletion; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006529:Hepatomegaly / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D010375:Pedigree; D015183:Restriction Mapping; D012720:Severity of Illness Index; D013163:Splenomegaly / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000145:classification / Q000150:complications / Q000235:genetics*
D018389:Codon, Nonsense; D006454:Hemoglobins; D005914:Globins