β°-Thalassemia in association with a γ-globin gene quadruplication

K. G. Yang, J. Z. Liu, Ferdane Kutlar

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

We have studied the hematology, hemoglobin composition, and globin gene arrangements in one young Turkish boy with a β°-thalassemia homozygosity and in 11 of his relatives. Evidence is presented that the chromosome with the β°-thalassemia determinant carries a γ-globin gene quadruplication, perhaps in a -(G)γ-(G)γ-(G)γ-(A)γ-gene arrangement. The eight γ-globin genes in this patients produced (G)γ and (A)γ chains in a 95 to 5 ratio, and nearly 99% of the patient's hemoglobin was of the fetal type. The clinical condition resembled that of a thalassemia intermedia. HbF levels in eight β-thalassemia heterozygotes varied between 0.5 and 4.2% and the percentages of (G)γ in this HbF averaged at 87% or 95%; this level is to some extent related to the haplotype of the normal chromosome. All subjects carried four α-globin genes; a new BglII polymorphism was observed within the ψα-globin gene.

Original languageEnglish (US)
Pages (from-to)1394-1397
Number of pages4
JournalBlood
Volume68
Issue number6
StatePublished - Jan 1 1986

Fingerprint

Thalassemia
Globins
Genes
Association reactions
Gene Order
Chromosomes
Hemoglobins
Fetal Hemoglobin
beta-Thalassemia
Hematology
Heterozygote
Haplotypes
Polymorphism
Chemical analysis

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Yang, K. G., Liu, J. Z., & Kutlar, F. (1986). β°-Thalassemia in association with a γ-globin gene quadruplication. Blood, 68(6), 1394-1397.

β°-Thalassemia in association with a γ-globin gene quadruplication. / Yang, K. G.; Liu, J. Z.; Kutlar, Ferdane.

In: Blood, Vol. 68, No. 6, 01.01.1986, p. 1394-1397.

Research output: Contribution to journalArticle

Yang, KG, Liu, JZ & Kutlar, F 1986, 'β°-Thalassemia in association with a γ-globin gene quadruplication', Blood, vol. 68, no. 6, pp. 1394-1397.
Yang KG, Liu JZ, Kutlar F. β°-Thalassemia in association with a γ-globin gene quadruplication. Blood. 1986 Jan 1;68(6):1394-1397.
Yang, K. G. ; Liu, J. Z. ; Kutlar, Ferdane. / β°-Thalassemia in association with a γ-globin gene quadruplication. In: Blood. 1986 ; Vol. 68, No. 6. pp. 1394-1397.
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