Haemoglobin LeporeBaltimore in a Spanish family.
Description of the clinical, haematological and biochemical aspects of a new family with heterozygous haemoglobin LeporeBaltimore. Of the 6 members affected. 4 were totally asymptomatic. All of them showed morphologic features of heterozygous beta-thalassaemia. The levels of haemoglobin Lepore ranged from 12.2 to 15% (mean value: 13.7 +/- 1.1%). The analysis of the primary structure of the haemoglobin shows that crossing over takes place between amino acid 50 of the delta-chain and amino acid 86 of the beta-chain. This is the third family, to our knowledge, with haemoglobin LeporeBaltimore so far described.
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D003434:Crossing Over, Genetic; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D013030:Spain; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C037468:hemoglobin Lepore Baltimore; C037659:hemoglobin Lepore