Compound heterozygosity of Hb D(Iran) (beta(22) Glu-->Gln) and beta(0)-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 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.
Agrawal
Meenal G
MG
Research and Development, SRL Ranbaxy Ltd, MIDC, Mumbai, India.
Bhanushali
Aparna A
AA
Dedhia
Pratiksha
P
Jeswani
Kanchan D
KD
Dayanand
Sucheta
S
Dasgupta
Amar
A
Das
Bibhu R
BR
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*
D006455:Hemoglobins, Abnormal; C073639:hemoglobin D Iran