Compound heterozygosity of Hb DIran (β22 Glu→Gln) and β0‐thalassemia (619 bp‐deletion) in India

The present report describes the hematologic and molecular study of the second case of Hb D Iran associated with p°-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 β°-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.