Τίτλος:
Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple. The first proband presented with microcytic hypochromic parameters without iron deficiency, a normal HbA2 and an elevated HbF (10.6%). His father presented with a similar phenotype and his wife was heterozygous for the common Mediterranean codon 39 (HBB:c.118C>T) mutation. Having excluded point mutations and common deletions, Multiplex Ligation-dependent Probe Amplification was performed revealing an unknown Gγ(Aγδβ) 0-thalassemia defect spanning from the Aγ gene to downstream of the β-globin gene provisionally named Leiden 69.5 kb deletion. In the second case, the wife presented with a mild thalassemic picture, normal HbA 2, elevated HbF (18.5%) and a β/α globin chain synthesis ratio of 0.62, without iron deficiency or any known β-thalassemia defect, while the husband was a simple carrier of the common Mediterranean IVS-I-110 (HBB:c.93-21 G>A) mutation. A new large deletion involving the β-gene and part of the δ-gene was identified by Multiplex Ligation-dependent Probe Amplification provisionally named "Leiden 7.4 kb". ©2009 Ferrata Storti Foundation.
Συγγραφείς:
Phylipsen, M.
Amato, A.
Cappabianca, M.P.
Traeger-Synodinos, J.
Kanavakis, E.
Basak, N.
Galanello, R.
Tuveri, T.
Ivaldi, G.
Harteveld, C.L.
Giordano, P.C.
Περιοδικό:
Haematologica-the hematology journal
Λέξεις-κλειδιά:
beta globin; hemoglobin A2; hemoglobin F, adult; aged; article; beta thalassemia; clinical article; codon; female; gene deletion; globin gene; heterozygosity; heterozygote; human; iron deficiency; Italy; male; microcytic anemia; phenotype; prenatal diagnosis; preventive medicine; Turkey (republic), Base Sequence; beta-Globins; beta-Thalassemia; Female; Genetic Counseling; Humans; Italy; Male; Pedigree; Sequence Deletion; Turkey
DOI:
10.3324/haematol.2009.007989
