title: Compound heterozygosity of Hb D(Iran) (beta(22) Glu-->Gln) and beta(0)-thalassemia (619 bp-deletion) in India.
abstract: The present report describes the hematologic and molecular study of the second case of Hb D(Iran) associated with beta(0)-thalassemia (619 bp-deletion) found in India and the first case in which the mutations have been identified at molecular level. The patient showed hypochromic, microcytic red cell picture with reduced red cell indices. The characterization of the hemoglobinopathy was made by electrophoretic and chromatographic techniques and confirmed by sequencing of the beta-globin gene. Both the propositus and her father were found to be carriers of the gene for beta(0)-thalassemia owing to the 619 bp-deletion mutation as seen by the polymerase chain reaction (PCR). Single base substitution GAA > CAA (indicative of Hb D(Iran)) in the heterozygous form was seen in the propositus as well as the mother by sequencing.
authors.affiliation: Research and Development, SRL Ranbaxy Ltd, MIDC, Mumbai, India.
authors.forename: Meenal G
authors.initials: MG
authors.lastname: Agrawal
authors.forename: Aparna A
authors.initials: AA
authors.lastname: Bhanushali
authors.forename: Pratiksha
authors.initials: P
authors.lastname: Dedhia
authors.forename: Kanchan D
authors.initials: KD
authors.lastname: Jeswani
authors.forename: Sucheta
authors.initials: S
authors.lastname: Dayanand
authors.forename: Amar
authors.initials: A
authors.lastname: Dasgupta
authors.forename: Bibhu R
authors.initials: BR
authors.lastname: Das
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India; D020125:Mutation, Missense; D017384:Sequence Deletion; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C073639:hemoglobin D Iran