The greekaγβ+‐hpfh observed in a large black family

H. J. Huang, T. A. Stoming, H. F. Harris, F. Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Several members of a Black family with a heterozygosity for an AγGβ+‐HPFH, shown in 1969 to have relatively low levels of Hb F and a low glycine to alanine ratio in the γ chain of this Hb F, were reinvestigated. Thirteen of 30 available family members in two generations had the heterozygous form of this condition, which was characterized by a decreased level of Hb A2, an average Hb FAD value of 13.3%, an equal distribution of Hb F over the red cells, and normal hematological values. The γ chain composition of isolated Hb F was determined by reversed phase high performance liquid chromatography for all 13 heterozygotes and showed an average Aγ value of 84.5 %. Hybridization with synthetic oligonucleotides, specific for normal and mutant sequences at positions 111–129 5′ to the Aγ globin gene, identified a G ± A base substitution at position 117, similar to that seen in subjects with the Greek Aγ‐HPFH. Our data support conclusions by others [15,16,30] that this replacement is causative of the increased Aγ chain synthesis in this condition. Haplotype analysis supported the suggestion that the G ± A substitution occurred as an independent event in this Black family.

Original languageEnglish (US)
Pages (from-to)401-408
Number of pages8
JournalAmerican Journal of Hematology
Volume25
Issue number4
DOIs
StatePublished - Aug 1987

Fingerprint

Flavin-Adenine Dinucleotide
Globins
Reverse-Phase Chromatography
Heterozygote
Oligonucleotides
Alanine
Glycine
Haplotypes
Reference Values
High Pressure Liquid Chromatography
Genes
hemoglobin A2'

Keywords

  • Greek γβ‐HPFH
  • haplotypes
  • synthetic oligonucleotides
  • γ to γ ratio
  • γ‐HPFH

ASJC Scopus subject areas

  • Hematology

Cite this

Huang, H. J., Stoming, T. A., Harris, H. F., Kutlar, F., & Huisman, T. H. J. (1987). The greekaγβ+‐hpfh observed in a large black family. American Journal of Hematology, 25(4), 401-408. https://doi.org/10.1002/ajh.2830250406

The greekaγβ+‐hpfh observed in a large black family. / Huang, H. J.; Stoming, T. A.; Harris, H. F.; Kutlar, F.; Huisman, T. H.J.

In: American Journal of Hematology, Vol. 25, No. 4, 08.1987, p. 401-408.

Research output: Contribution to journalArticle

Huang, HJ, Stoming, TA, Harris, HF, Kutlar, F & Huisman, THJ 1987, 'The greekaγβ+‐hpfh observed in a large black family', American Journal of Hematology, vol. 25, no. 4, pp. 401-408. https://doi.org/10.1002/ajh.2830250406
Huang HJ, Stoming TA, Harris HF, Kutlar F, Huisman THJ. The greekaγβ+‐hpfh observed in a large black family. American Journal of Hematology. 1987 Aug;25(4):401-408. https://doi.org/10.1002/ajh.2830250406
Huang, H. J. ; Stoming, T. A. ; Harris, H. F. ; Kutlar, F. ; Huisman, T. H.J. / The greekaγβ+‐hpfh observed in a large black family. In: American Journal of Hematology. 1987 ; Vol. 25, No. 4. pp. 401-408.
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