Hb S(C)-beta+-thalassaemia: different mutations are associated with different levels of normal Hb A. 1988

J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, Georgia 30912-3331.

Analysis of amplified DNA through hybridization with 32P-labelled synthetic oligonucleotide probes has provided data about the molecular abnormality for beta-thalassaemic globin genes present in 32 Black and eight Mediterranean patients with Hb S(C)-beta+-thalassaemia. The patients were categorized according to these beta-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 gamma values were observed only in patients with a beta-thalassaemia chromosome having an Xmn I site 5' to G gamma. The data readily explain the variability in Hb A level that has been repeatedly noted in patients with Hb S(C)-beta+-thalassaemia.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005319 Fetal Hemoglobin The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA. Hemoglobin F,Hemoglobin, Fetal
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006441 Hemoglobin A Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
D006444 Hemoglobin C A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
D006451 Hemoglobin, Sickle An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. Hemoglobin S,Deoxygenated Sickle Hemoglobin,Deoxyhemoglobin S,Hemoglobin SS,Hemoglobin, Deoxygenated Sickle,SS, Hemoglobin,Sickle Hemoglobin,Sickle Hemoglobin, Deoxygenated
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
June 1994, British journal of haematology,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
January 1979, Acta haematologica,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
October 1994, British journal of haematology,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
May 1979, British journal of haematology,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
April 1993, British journal of haematology,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
January 2008, European journal of haematology,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
September 1970, The West Indian medical journal,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
December 1982, Journal of medical genetics,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
May 1982, British journal of haematology,
J M Gonzalez-Redondo, and F Kutlar, and A Kutlar, and T A Stoming, and J M de Pablos, and Y Kilinç, and T H Huisman
October 1987, British journal of haematology,
Copied contents to your clipboard!