Hb S(c)-β+ -thalassaemia: Different mutations are associated with different levels of normal Hb A

J. M. Gonzalez-Redondo, Ferdane Kutlar, Abdullah Kutlar, T. A. Stoming, J. M. De Pablos, Y. Kilinc, T. H.J. Huisman

Research output: Contribution to journalArticle

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Abstract

Analysis of amplified DNA through hybridization with 32P-labelled synthetic oligonucleotide probes has provided data about the molecular abnormality for β-thalassaemic globin genes present in 32 Black and eight Mediterranean patients with Hb S(c)-β+ -thalassaemia. The patients were categorized according to these β-thalassaemia mutations, and average haematological and haemoglobin composition data were compared for each of four different groups. Twenty-eight Black patients had the -29 A→G substitution and four had the -88 C→T substitution; all had mild disease with comparable haematology and an average Hb A level of 20%. Six Mediterranean patients had the IVS-1, 110 G→A mutation; their haematological data were nearly the same as that for the Black patients except for a lower Hb A value of 11%. Two Turkish patients with the IVS-2, 745 C→G mutation were more severely affected with mild sickling disease and low Hb A levels of 5%. Hb F levels varied greatly because of age differences; high (G)γ values were observed only in patients with a β-thalassaemia chromosome having an Xmn I site 5' to (G)γ. The data readily explain the variability in Hb A level that has been repeatedly noted in patients with Hb S(C)-β+-thalassaemia.

Original languageEnglish (US)
Pages (from-to)85-89
Number of pages5
JournalBritish Journal of Haematology
Volume70
Issue number1
DOIs
StatePublished - Jan 1 1988

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Thalassemia
Mutation
Globins
Oligonucleotide Probes
Hematology
Hemoglobins
Chromosomes
DNA

ASJC Scopus subject areas

  • Hematology

Cite this

Gonzalez-Redondo, J. M., Kutlar, F., Kutlar, A., Stoming, T. A., De Pablos, J. M., Kilinc, Y., & Huisman, T. H. J. (1988). Hb S(c)-β+ -thalassaemia: Different mutations are associated with different levels of normal Hb A. British Journal of Haematology, 70(1), 85-89. https://doi.org/10.1111/j.1365-2141.1988.tb02438.x

Hb S(c)-β+ -thalassaemia : Different mutations are associated with different levels of normal Hb A. / Gonzalez-Redondo, J. M.; Kutlar, Ferdane; Kutlar, Abdullah; Stoming, T. A.; De Pablos, J. M.; Kilinc, Y.; Huisman, T. H.J.

In: British Journal of Haematology, Vol. 70, No. 1, 01.01.1988, p. 85-89.

Research output: Contribution to journalArticle

Gonzalez-Redondo, J. M. ; Kutlar, Ferdane ; Kutlar, Abdullah ; Stoming, T. A. ; De Pablos, J. M. ; Kilinc, Y. ; Huisman, T. H.J. / Hb S(c)-β+ -thalassaemia : Different mutations are associated with different levels of normal Hb A. In: British Journal of Haematology. 1988 ; Vol. 70, No. 1. pp. 85-89.
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