A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia.
نویسندگان
چکیده
A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.
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ورودعنوان ژورنال:
- Haematologica
دوره 90 Suppl شماره
صفحات -
تاریخ انتشار 2005