title: Hb Lansing (HBA2: c.264C > G) and a new β promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population.
abstract: We report two examples showing how problematic it can be to define the phenotype of new or rare globin genes mutations. We describe two mutations observed for the first time in the Omani population: the first was found in the consanguineous parents of a deceased newborn with hepatomegaly, cardiomegaly and severe hemolytic anemia, putatively homozygous for the rare Hb Lansing (HBA2: c.264C > G) variant. The second is a novel β-globin gene promoter mutation [-52 (G > T)] observed in four independent patients. Two with borderline/elevated Hb A2, α-thalassemia (α-thal) and hypochromic red cell indices, and two heterozygotes for Hb S (HBB: c.20A > T), α-thal and with Hb A/Hb S ratios possibly indicating a very mild β(+)-thalassemia (β(+)-thal) mutation.
authors.affiliation: Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.
authors.forename: Suha M
authors.initials: SM
authors.lastname: Hassan
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Engbert
authors.initials: E
authors.lastname: Bakker
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009850:Oman; D010641:Phenotype; D011401:Promoter Regions, Genetic; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055544:beta-Globins; D006443:Hemoglobin A2
keywords: Hb Lansing; mild β-thalassemia (β-thal); neonatal death