De Caluwé J P, Alexander M, Bondue H
Laboratoire de Biologie Clinique, Centre Hospitalier d'Etterbeek-Ixelles, Bruxelles, Belgique.
Acta Clin Belg. 1993;48(5):297-306. doi: 10.1080/17843286.1993.11718322.
This paper describes clinical findings in subjects heterozygous for hemoglobin C and in compound heterozygotes SC. Most of our patients were coming from lands bordering the Guinea Gulf, on the inside of the loop made by the river Niger and from Haiti, which was populated by African slaves coming mainly from the Golden Coast (actually Ghana). Heterozygotes are asymptomatic and do not suffer from anemia. Age at diagnosis is higher than for SCA, although one of our cases was diagnosed at age one. Overwhelming infections or major anemia were not observed. Basal hemolysis remained moderate. HbF levels were not increased as they may be in sickle cell anemia. Splenomegaly was observed in 2/5 patients. Among severe complications we encountered, we must mention one case of foetal death, one tibial infarct, one case of pure red cell aplasia caused by parvovirus B19 infection, and one case of proliferative retinopathy.
本文描述了血红蛋白C杂合子及SC复合杂合子受试者的临床发现。我们的大多数患者来自几内亚湾沿岸国家、尼日尔河形成的内陆地区以及海地，海地的人口主要是来自黄金海岸（现今的加纳）的非洲奴隶。杂合子无症状，不患贫血症。诊断年龄高于镰状细胞贫血患者，不过我们有一例患者在一岁时被诊断出来。未观察到严重感染或重度贫血。基础溶血程度仍为中度。血红蛋白F水平不像镰状细胞贫血那样会升高。五分之二的患者出现脾肿大。在我们遇到的严重并发症中，必须提及一例胎儿死亡、一例胫骨梗死、一例由细小病毒B19感染引起的纯红细胞再生障碍性贫血以及一例增殖性视网膜病变。
