title: Molecular characterization of a novel 55.1 kb (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion in two Canadian families.
abstract: We report two Canadian families in which there are four carriers of a novel (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion. The patients all have mild microcytosis and hypochromia, and elevated levels of Hb F ranging from 9.7 to 17.3%. The precise endpoints of the deletion have been identified and are unique relative to other forms of (G)gamma((A)gammadeltabeta)(0)-thal reported in the literature. The deletion encompasses approximately 55.1 kb, beginning approximately 1.6 kb downstream of the (G)gamma-globin gene and extending approximately 29.0 kb downstream of the beta-globin gene.
authors: Molecular Diagnostic Genetics, Hamilton Regional Laboratory Medicine Program, Hamilton, ON, Canada.
authors: Indu
authors: I
authors: Voruganti
authors: Barry
authors: B
authors: Eng
authors: John S
authors: JS
authors: Waye
mesh_terms: D000747:Anemia, Hypochromic / Q000235:genetics; D002170:Canada; D005192:Family Health; D005319:Fetal Hemoglobin; D006801:Humans; D017384:Sequence Deletion; D013789:Thalassemia / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics; D055545:gamma-Globins / Q000235:genetics
chemical_list: D055544:beta-Globins; D055545:gamma-Globins; D005319:Fetal Hemoglobin