Villegas A, Malcorra J J, Balda I, Calero F, Porres A, Alvarez-Sala J L, Espinós D
Hospital Universitario San Carlos, Universidad Complutense de Madrid, Spain.
Am J Med Genet. 1989 Jan;32(1):9-14. doi: 10.1002/ajmg.1320320103.
The clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date. Among the descendants, two first cousins (III-10 and III-11), both of whom are affected by the heterozygous trait of Hb Louisville, had had three abortions of undetermined causes.
描述了一个患有杂合型血红蛋白(Hb)路易斯维尔的新家族的临床、血液学和生化特征。该家族表现出氧亲和力和协同性降低,且具有正常的波尔效应。这个家族是迄今为止报告的受影响成员数量最多的。在后代中,两个堂表亲(III-10和III-11)均受Hb路易斯维尔杂合性状影响,曾有三次不明原因的流产。