Haemoglobin Lepore Boston and elliptocytosis in a family of Indonesian-German ancestry.
A family is presented in which Hb Lepore Boston was found in six individuals over three generations. The gene must have had its origin either in Java (Indonesia) or in what is now the Federal Republic of Germany. The haemoglobin was characterized by amino-acid analysis of the six tryptic peptides that have a different composition in the beta- and the delta-chain. The ratio of glycine to alanine in position 136 of the fetal haemoglobin, which was somewhat raised in the Hb Lepore carriers, averaged 31:39. In addition an elliptocytosis gene was found, which was inherited independently from Hb Lepore; the simultaneous presence of elliptocytosis in three family members did not seem to aggravate the mild anaemia caused by Hb Lepore.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000596:Amino Acids / Q000097:blood; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D002848:Chromatography, DEAE-Cellulose; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000150:complications / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005796:Genes; D005860:Germany, West; D006453:Hemoglobinopathies / Q000097:blood / Q000150:complications / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007214:Indonesia; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010455:Peptides / Q000032:analysis
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010455:Peptides; D005319:Fetal Hemoglobin