A case of homozygous haemoglobin Lepore Boston in Iran.
Homozygous haemoglobin LeporeBoston disease is described in an Iranian 16-year-old boy presenting the clinical manifestations of BETA-thalassaemia major. The parents were related (cousins), and both carriers of Lepore trait. It seems that the symptoms are milder in this case than what reported before.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000032:analysis; D001797:Blood Protein Electrophoresis; D002848:Chromatography, DEAE-Cellulose; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D010446:Peptide Fragments / Q000032:analysis; D013789:Thalassemia / Q000175:diagnosis
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments