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Hemoglobin
international journal for hemoglobin research
Volume 16, 1992 - Issue 5
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Original Article

Molecular Genetic Studies in Black Families with Sickle Cell Anemia and Unusually High Levels of Fetal Hemoglobin

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Pages 363-377 | Received 12 Feb 1992, Accepted 01 Jun 1992, Published online: 07 Jul 2009
 

Abstract

Clinical, hematologic, and molecular genetic studies are reported for five families with SS patients having unusually high fetal hemoglobin (Hb F) levels (mean 28.3%, range 19–42%). Some of the individuals were symptom-free and one was not anemic. However, some were symptomatic despite a very high Hb F. Neither the Hb F level nor the F cell distribution entirely explained the variation in clinical seventy. Molecular genetic studies identified the Senegal haplotype with the associated -158 Gγ (C→T) mutation in two of the five families. The -202 Gγ (C→G) mutation was not found in any of the individuals studied. Sequencing of the γ-globin gene promoters to detect genetic high F determinants not detectable by restriction digestion was not performed. All AS parents and AS siblings demonstrated elevated F cells when the Senegall-158 Gγ (C→T) mutation was present with either the βs or βA allele. Double heterozygosity for two different high F determinants in some SS patients is suggested by the studies in at least one family. Discordance among siblings in clinical and hematologic manifestations in two families provides additional evidence for loci regulating Hb F cell production which are not linked to the β-globin gene clusters.

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