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Publications (5)10.47 Total impact

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    ABSTRACT: The present study provides information about the ratios in reticulocytes of normal adults and with different α-globin gene deficiencies; it found its origin in analytical data of blood samples from a Laotian couple and their newborn baby. The father carried the 4.2 kb deletion on one chromosome and a TAA → CAA mutation at the terminating codon of the α2 gene (Hb Constant Spring or CS) on the other chromosome. The mother had the 3.7 kb deletion on one chromosome and a TA A → TAT mutation at the terminating codon of the α2-globin gene (Hb Paksé) of the second chromosome. The baby was a compound heterozygote for the two termination codon mutations. The mRNA data for this family were compared to those for persons with several well-defined α-globin gene deficiencies. The results confirm the importance of the α2α1-mRNA for the synthesis of α chains in α-thalassemia-2 homozygotes () and in patients with Hb H disease due to the deletion of three α-globin genes (). Furthermore, the mRNA production of the α1-globin gene on the chromosome with the αCS mutation (αCSα) is only one-half of that by the α2α1-globin gene of a chromosome with a 3.7 or 4.2 kb deletion, explaining the greater severity of, and higher Hb H level in Hb H patients with the αCSα condition () as compared to those with the three gene deletion (). The methodology could be useful as a screening for the presence of point mutations leading to the functional loss of a single α-globin gene, provided common deletional alleles have been excluded.
    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 04/1996; 1315(3):188–192. · 4.91 Impact Factor
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    ABSTRACT: The present study provides information about the alpha / beta and alpha 2 / alpha 1-mRNA ratios in reticulocytes of normal adults and individuals with different alpha-globin gene deficiencies; it found its origin in analytical data of blood samples from a Laotian couple and their newborn baby. The father carried the 4.2 kb deletion on one chromosome and a TAA --> CAA mutation at the terminating codon of the alpha 2 gene (Hb Constant Spring or CS) on the other chromosome. The mother had the 3.7 kb deletion on one chromosome and a TA A --> TAT mutation at the terminating codon of the alpha 2-globin gene (Hb Paksé) of the second chromosome. The baby was a compound heterozygote for the two termination codon mutations. The mRNA data for this family were compared to those for persons with several well-defined alpha-globin gene deficiencies. The results confirm the importance of the alpha 2 alpha 1-mRNA for the synthesis of alpha chains in alpha-thalassemia-2 homozygotes (-alpha/-alpha) and in patients with Hb H disease due to the deletion of three alpha-globin genes (-alpha/--). Furthermore, the MRNA production of the alpha 1-globin gene on the chromosome with the alpha CS mutation (alpha CS alpha) is only one-half of that by the alpha 2 alpha 1-globin gene of a chromosome with a 3.7 or 4.2 kb deletion, explaining the greater severity of, and higher Hb H level in Hb H patients with the alpha CS alpha condition (alpha CS alpha/--) as compared to those with the three gene deletion (-alpha/--). The methodology could be useful as a preliminary screening for the presence of point mutations leading to the functional loss of a single alpha-globin gene, provided common deletional alleles have been excluded.
    Biochimica et Biophysica Acta 04/1996; 1315(3):188-92. · 4.66 Impact Factor
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    ABSTRACT: The present study provides information about the αβandα2α1-mRNA ratios in reticulocytes of normal adults and with different α-globin gene deficiencies; it found its origin in analytical data of blood samples from a Laotian couple and their newborn baby. The father carried the 4.2 kb deletion on one chromosome and a TAA → CAA mutation at the terminating codon of the α2 gene (Hb Constant Spring or CS) on the other chromosome. The mother had the 3.7 kb deletion on one chromosome and a TA A → TAT mutation at the terminating codon of the α2-globin gene (Hb Paksé) of the second chromosome. The baby was a compound heterozygote for the two termination codon mutations. The mRNA data for this family were compared to those for persons with several well-defined α-globin gene deficiencies. The results confirm the importance of the α2α1-mRNA for the synthesis of α chains in α-thalassemia-2 homozygotes (−α−α) and in patients with Hb H disease due to the deletion of three α-globin genes (−α−−). Furthermore, the mRNA production of the α1-globin gene on the chromosome with the αCS mutation (αCSα) is only one-half of that by the α2α1-globin gene of a chromosome with a 3.7 or 4.2 kb deletion, explaining the greater severity of, and higher Hb H level in Hb H patients with the αCSα condition (αCSα−−) as compared to those with the three gene deletion (−α−−). The methodology could be useful as a screening for the presence of point mutations leading to the functional loss of a single α-globin gene, provided common deletional alleles have been excluded.
    Biochimica Et Biophysica Acta-molecular Basis of Disease - BBA-MOL BASIS DIS. 01/1996; 1315(3):188-192.
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    ABSTRACT: The present study concerns the identification of four alpha-globin gene deficiencies, one alpha 1-globin gene mutation, and one beta-globin gene mutation in a Laotian couple and their newborn baby. The parents were Hb E heterozygotes and the baby was an Hb E homozygote. The father carried the 4.2-kb deletion on one chromosome and a TAA-->CAA mutation at the terminating codon of the alpha 2-gene (Hb Constant Spring or CS) on the other chromosome. Moreover, the remaining alpha 1-globin gene on the chromosome with the 4.2-kb deletion was mutated at codon 74 (GAC-->CAC; Asp-->His; Hb Q-Thailand). The mother had the 3.7-kb deletion on one chromosome and a TAA-->TAT mutation at the terminating codon of the alpha 2-globin gene (Hb Paksé) of the second chromosome. The baby was a compound heterozygote for the two termination codon mutations and, at birth, had a high level of Hb Bart's (16.6%) reflecting a mild form of Hb H disease.
    Acta Haematologica 01/1995; 94(3):144-7. · 0.89 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The present study concerns the identification of four α-globin gene deficiencies, one α1-globin gene mutation, and one β-globin gene mutation in a Laotian couple and their newborn baby. The parents were Hb E heterozygotes and the baby was an Hb E homozygote. The father carried the 4.2-kb deletion on one chromosome and a TAA→CAA mutation at the terminating codon of the α2-gene (Hb Constant Spring or CS) on the other chromosome. Moreover, the remaining α1-globin gene on the chromosome with the 4.2-kb deletion was mutated at codon 74 (GAC → CAC; Asp → His; Hb Q-Thailand). The mother had the 3.7-kb deletion on one chromosome and a TAA→TAT mutation at the terminating codon of the α2-globin gene (Hb Paksé) of the second chromosome. The baby was a compound heterozygote for the two termination codon mutations and, at birth, had a high level of Hb Bart’s (16.6%) reflecting a mild form of Hb H disease.Copyright © 1995 S. Karger AG, Basel
    Acta Haematologica - ACTA HAEMATOL. 01/1995; 94(3):144-147.