Hb Lepore in the Indian population.
A study of the spectrum of beta-thalassemia mutations in 230 patients with thalassemia major and 90 patients with thalassemia intermedia revealed mutations producing Hb Lepore in four patients. Two were homozygous and two were compound heterozygous for Hb Lepore and beta-thalassemia. Among the six delta beta fusion genes found in these four patients five were those producing Hb Lepore-Hollandia and one producing Hb Lepore-Washington-Boston. We also describe a possible misdiagnosis in the heterozygous state of Hb Lepore, as Hb Lepore and Hb A2 are not distinctly separated by cation exchange high performance liquid chromatography.
Shaji
Ramachandran V
RV
Department of Hematology, Christian Medical College, Vellore, India. rvshaji@cmcvellore.ac.in
Edison
Eunice Sindhuvi
ES
Krishnamoorthy
Rajagopal
R
Chandy
Mammen
M
Srivastava
Alok
A
D001483:Base Sequence; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D003951:Diagnostic Errors; D005260:Female; D005914:Globins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006443:Hemoglobin A2 / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013156:Splenectomy; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics / Q000601:surgery / Q000628:therapy
D006455:Hemoglobins, Abnormal; C477064:hemoglobin Lepore-Hollandia; C039800:hemoglobin Lepore Boston-Washington; D005914:Globins; D006443:Hemoglobin A2; C037659:hemoglobin Lepore