ABSTRACT
Hb Johnstown, a high oxygen affinity hemoglobin, was identified in four members from two unrelated Spanish families with erythrocytosis and left-shifted hemoglobin-oxygen dissociation curve. This hemoglobin variant, electrophoretically silent, was analyzed by reverse-phase high-performance liquid chromatography, and the mutation was characterized at the DNA level by beta gene sequencing. In one of these families, two members are affected with Hb Johnstown in association with beta(0)-thalassemia. In these cases the erythrocytosis and low values for P(50) due to Hb Johnstown remain in spite of the beta-thalassemia.
Subject(s)
Hemoglobins, Abnormal/genetics , beta-Thalassemia/blood , beta-Thalassemia/genetics , Adult , Aged , Female , Humans , Leucine , Male , Middle Aged , Mutation , Spain , ValineSubject(s)
Aspartic Acid/chemistry , Glycine/chemistry , Hemoglobin J/genetics , Heterozygote , beta-Thalassemia/genetics , Adolescent , Base Sequence , Child , Humans , Male , Molecular Sequence Data , SpainABSTRACT
A Spanish family with alpha-thalassemia-1 (alpha-Thal-1), deletion (--MA), is described. In addition to the loss of 22 kb of DNA with a deletion of the alpha 1, alpha 2, psi alpha 2, and psi zeta 1 genes, a triplication of the zeta gene cluster in "cis" is produced. The structure of this triplication is formed by the psi zeta 1 gene, the interzeta region, and, possibly, the insertion of the psi alpha 2 fragment.
Subject(s)
Globins/genetics , alpha-Thalassemia/genetics , Adult , Child , Child, Preschool , Chromosome Mapping , Female , Humans , Male , Point MutationABSTRACT
We have detected a second family (five members affected) with a large (32 kb) deletion involving the alpha 1, alpha 2, psi alpha 1, psi alpha 2, psi zeta 1, and zeta-globin genes. This mutation has been previously described in Calabria, Italy, in a child and his mother and has been named alpha-thalassemia--)AL.
Subject(s)
Mutation , alpha-Thalassemia/genetics , Adult , Female , Gene Deletion , Genes , Globins/genetics , Humans , SpainABSTRACT
A novel alpha-thalassemia-1 deletion of 14-15.4 kb that removes the alpha-2, alpha-1, theta-1 genes and pseudo-alpha-1 genes, has been detected in a father and 2 of his children from northern Spain.
