NDLI: A family with segregating triplicated alpha globin loci and beta thalassemia

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A family with segregating triplicated alpha globin loci and beta thalassemia

Content Provider	Scilit
Author	Galanello, R. Ruggeri, R. Paglietti, E. Addis, M. Melis, Ma Cao, A.
Copyright Year	1983
Description	In this article we report a Sardinian family, in which a beta- thalassemia gene and a triple alpha-globin loci, counterpart of the rightward deletion type alpha-thalassemia-2, were segregating. The analysis of the genotype-phenotype correlations in the different family members allowed us to give an outline of the manifestations associated with different genotype combinations. The heterozygote for the triple alpha-loci showed no consistent abnormal clinical or hematologic characteristics and presented balanced alpha/beta-globin chain synthesis. In the homozygous state for this lesion, the only phenotypic expression was a slightly imbalanced globin chain synthesis. The combination of heterozygous beta-thalassemia with the heterozygous state for the triple alpha-globin loci produced no clinical manifestations and showed a hematologic phenotype indistinguishable from that of heterozygous beta-thalassemia. On the other hand, the combination of the homozygous state for the triple alpha-globin gene loci and the heterozygous state for beta-thalassemia produced a clinical picture of thalassemia intermedia with a very mild clinical course, minor increase of fetal hemoglobin (HbF) levels, and a pronounced imbalance of globin chain synthesis.
Related Links	https://ashpublications.org/blood/article-pdf/62/5/1035/589182/1035.pdf
Ending Page	1040
Page Count	6
Starting Page	1035
DOI	10.1182/blood.v62.5.1035.1035
Journal	Blood
Issue Number	5
Volume Number	62
Language	English
Publisher	American Society of Hematology
Publisher Date	1983-11-01
Access Restriction	Open
Subject Keyword	Medical Laboratory Technology Beta Thalassemia Loci Triple Alpha Globin Journal: Blood (Vol- 81, Issue- 5)
Content Type	Text
Resource Type	Article

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