Compound heterozygosity for a mild β+ and a rare β0-thalassemia allele

J. Codrington, J. Anijs, J. H. Wisse, F. A. Codrington, H. Li, Ferdane Kutlar, M. Ramachandran, T. H.J. Huisman

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Hematological and hemoglobin composition data are presented for 14 members of a Surinam family (and for 1 unrelated subject) with either a β-thalassemia heterozygosity [5 with the -29 (A → G) β+ mutation and 5 with the IVS II-849 (A → G) β0 mutation] or a compound heterozygosity (the 5 remaining patients). Identification of the mutation was by hybridization of amplified DNA with 32P-labelled synthetic oligonucleotides. The data indicate distinct differences between the two groups of heterozygotes, mainly in degree of microcytosis and hypochromia, in Hb A2 level, and in the level of (G)γ (high in the -29 heterozygotes and low in the IVS II-849 heterozygotes). The 5 compound heterozygotes had a thalassemia intermedia with high Hb F levels (high (G)γ), elevated Hb A2, and Hb A levels comparable to those seen in patients with a homozygosity for the -29 mutation or with the combination of this β+-thalassemia and Hb S. An α-thalassemia-2 heterozygosity (-3.7 kb deletion) was present in 2 patients. Their hematological data were improved over those for the patients with four α globin genes; one was the mother of two sets of twins. The high (G)γ value in the Hb F of the compound heterozygotes suggests that the high Hb F production in the condition is mainly directed by the chromosome with the -29 (A → G) mutation.

Original languageEnglish (US)
Pages (from-to)135-138
Number of pages4
JournalActa Haematologica
Volume84
Issue number3
DOIs
StatePublished - Jan 1 1990

Fingerprint

Thalassemia
Heterozygote
Alleles
Mutation
Suriname
Globins
beta-Thalassemia
Oligonucleotides
Hemoglobins
Chromosomes
Mothers
DNA
Genes

Keywords

  • Hb F and Hb A synthesis
  • α-thalassemia

ASJC Scopus subject areas

  • Hematology

Cite this

Codrington, J., Anijs, J., Wisse, J. H., Codrington, F. A., Li, H., Kutlar, F., ... Huisman, T. H. J. (1990). Compound heterozygosity for a mild β+ and a rare β0-thalassemia allele. Acta Haematologica, 84(3), 135-138. https://doi.org/10.1159/000205050

Compound heterozygosity for a mild β+ and a rare β0-thalassemia allele. / Codrington, J.; Anijs, J.; Wisse, J. H.; Codrington, F. A.; Li, H.; Kutlar, Ferdane; Ramachandran, M.; Huisman, T. H.J.

In: Acta Haematologica, Vol. 84, No. 3, 01.01.1990, p. 135-138.

Research output: Contribution to journalArticle

Codrington, J, Anijs, J, Wisse, JH, Codrington, FA, Li, H, Kutlar, F, Ramachandran, M & Huisman, THJ 1990, 'Compound heterozygosity for a mild β+ and a rare β0-thalassemia allele', Acta Haematologica, vol. 84, no. 3, pp. 135-138. https://doi.org/10.1159/000205050
Codrington J, Anijs J, Wisse JH, Codrington FA, Li H, Kutlar F et al. Compound heterozygosity for a mild β+ and a rare β0-thalassemia allele. Acta Haematologica. 1990 Jan 1;84(3):135-138. https://doi.org/10.1159/000205050
Codrington, J. ; Anijs, J. ; Wisse, J. H. ; Codrington, F. A. ; Li, H. ; Kutlar, Ferdane ; Ramachandran, M. ; Huisman, T. H.J. / Compound heterozygosity for a mild β+ and a rare β0-thalassemia allele. In: Acta Haematologica. 1990 ; Vol. 84, No. 3. pp. 135-138.
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