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• W32731710 endingPage "1103" @default.
• W32731710 startingPage "1100" @default.
• W32731710 abstract "ETA-THALASSEMIA is an autosomal recessive disB ease characterized by a deficiency (P’-thalassemia) or absence ( Po-thalassemia) of p-globin chain synthesis. In general, the Po- and P’-thalassemia mutations are caused by base substitutions and small insertions or deletions in the P-globin gene. Almost 100 such mutations have now been reported.’.’ In addition, there are larger deletions that result in P”-thalassemia. In this report, we identify and characterize a Pothalassemia mutation caused by a deletion of the 5’ coding region of the P-globin gene and several hundred basepairs (bp) of upstream sequences. In the heterozygote, this deletion is associated with an unusually high level of hemoglobin (Hb) A, and typical P-thalassemia trait. The endpoints of this new P-globin gene deletion reaffirm the notion that removal of the 5’ region of the P-globin gene and adjacent upstream sequences is associated with elevated Hb A, levels, and further localize the essential sequences that, when deleted, can lead to this phenotypic anomaly." @default.
• W32731710 created "2016-06-24" @default.
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• W32731710 date "1991-03-01" @default.
• W32731710 modified "2023-09-27" @default.
• W32731710 title "High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region." @default.
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• W32731710 doi "https://doi.org/10.1182/blood.v77.5.1100.1100" @default.
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• W32731710 hasPublicationYear "1991" @default.
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