Compound heterozygosity for two new mutations in the beta-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA-->AAAAAA)] leads to thalassemia intermedia in a Tunisian patient.
More than 200 mutations that are associated with beta-thalassemia (thal) have been found. In most cases, studies to detect a mutation in a patient is made easier because of the existence of geographical sets of mutations that allow the use of a dedicated mutation detection kit. We describe here a patient who originated from Tunisia, in whom we found two as yet unreported mutations, showing that even in a well-studied population a full gene study might be needed to characterize mutation(s).
Jacquette
Aurelia
A
Laboratoire de Biochimie et de Génétique, Hôpital Henri Mondor, Créteil, France.
Le Roux
Geneviève
G
Lacombe
Chantal
C
Goossens
Michel
M
Pissard
Serge
S
D000328:Adult; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D039104:RNA 3' Polyadenylation Signals / Q000235:genetics*; D011933:Reagent Kits, Diagnostic; D014416:Tunisia; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D011933:Reagent Kits, Diagnostic; D005914:Globins