TY - JOUR
T1 - Molecular characterization of β‐thalassemia in Egyptians
AU - Hussein, Ibtessam R.
AU - Temtamy, Samia A.
AU - El‐Beshlawy, Amal
AU - Fearon, Clare
AU - Shalaby, Zeinab
AU - Vassilopoulos, George
AU - Kazazian, Haig H.
PY - 1993
Y1 - 1993
N2 - We sought to determine the spectrum of mutations producing β‐thalassemia in Egypt using genomic PCR and a variety of mutation‐screening procedures. Thirty‐four β‐thalassemia and three Hb S/β‐thalassemia patients originating from different regions of Egypt were studied, and the causative mutation was found in 69 of 71 (97%) β‐thalassemia genes. Four mutations accounted for 78% of β‐thalassemia genes in this population; IVS‐1, nt 110 (41%), IVS‐1 nt 6 (13%), IVS‐1, nt 1 (13%), and IVS‐2, nt 848 (11%). The latter allele, a C–A mutation at the third nucleotide of an acceptor site consensus sequence, has been described previously only in one Egyptian, one Iranian, one Tunisian, and one Black American patient. Nine other alleles each accounted for 1‐3% of β‐thalassemia genes. Among these was one codon 27 allele (Hb Knossos), two frameshift 106/107 alleles previously seen only in a Black American, and a rarely observed mutation in the distal promoter region of the β‐globin gene, −87 (C‐A). Our results suggest that from a molecular genetic standpoint a β‐thalassemia prevention program based on carrier screening and prenatal diagnosis can be implemented in Egypt. In couples at risk for β‐thalassemia, the causative mutation should be identifiable in both members in 92% and in one member in the remaining 8%. © 1993 Wiley‐Liss, Inc.
AB - We sought to determine the spectrum of mutations producing β‐thalassemia in Egypt using genomic PCR and a variety of mutation‐screening procedures. Thirty‐four β‐thalassemia and three Hb S/β‐thalassemia patients originating from different regions of Egypt were studied, and the causative mutation was found in 69 of 71 (97%) β‐thalassemia genes. Four mutations accounted for 78% of β‐thalassemia genes in this population; IVS‐1, nt 110 (41%), IVS‐1 nt 6 (13%), IVS‐1, nt 1 (13%), and IVS‐2, nt 848 (11%). The latter allele, a C–A mutation at the third nucleotide of an acceptor site consensus sequence, has been described previously only in one Egyptian, one Iranian, one Tunisian, and one Black American patient. Nine other alleles each accounted for 1‐3% of β‐thalassemia genes. Among these was one codon 27 allele (Hb Knossos), two frameshift 106/107 alleles previously seen only in a Black American, and a rarely observed mutation in the distal promoter region of the β‐globin gene, −87 (C‐A). Our results suggest that from a molecular genetic standpoint a β‐thalassemia prevention program based on carrier screening and prenatal diagnosis can be implemented in Egypt. In couples at risk for β‐thalassemia, the causative mutation should be identifiable in both members in 92% and in one member in the remaining 8%. © 1993 Wiley‐Liss, Inc.
KW - DGGE
KW - PCR sequencing
KW - β‐thalassemia
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U2 - 10.1002/humu.1380020109
DO - 10.1002/humu.1380020109
M3 - Article
C2 - 8477263
AN - SCOPUS:0027409287
SN - 1059-7794
VL - 2
SP - 48
EP - 52
JO - Human mutation
JF - Human mutation
IS - 1
ER -