Cuccia Liana, Saieva Laura, Borsellino Zelia, Marocco Maria R, Ruffo Giovan B, Riou Jean, Capra Marcello
Unita Operativa Complessa Ematologia-Emoglobinopatie, Palermo, Italia.
Hemoglobin. 2008;32(6):582-7. doi: 10.1080/03630260802507766.
Hemoglobins (Hbs) with high oxygen affinity play a well-known role among the causes of erythrocytosis. In 1996, a new Hb called Hb Hinwil or beta38(C4)Thr-->Asn was described. In carriers, it causes an increase in the number of red blood cells, total Hb, and hematocrit. Here we report the case of a patient, aged 10 months, whom we observed because of severe erythrocytosis. The family history of beta-thalassemia (beta-thal) inheritance, and the evidence in the patient of marked microcytosis, prompted us to perform molecular analysis to detect beta gene mutations that revealed a codon 39 (C>T) (beta0) mutation in the heterozygous state and the presence of the Hb Hinwil mutation on the other allele. We discuss diagnostic, clinical, prognostic, and therapeutic aspects of this rare condition, underlining the extreme difficulty in choosing therapeutic options because of a lack of similar reports in the literature.
具有高氧亲和力的血红蛋白（Hb）在红细胞增多症的病因中起着众所周知的作用。1996年，一种名为Hb Hinwil或β38（C4）苏氨酸→天冬酰胺的新型Hb被描述。在携带者中，它会导致红细胞数量、总血红蛋白和血细胞比容增加。在此，我们报告一例10个月大的患者，因其严重红细胞增多症而接受观察。β地中海贫血（β-地贫）遗传的家族史以及患者明显的小红细胞症证据，促使我们进行分子分析以检测β基因突变，结果显示在杂合状态下存在密码子39（C>T）（β0）突变，且另一个等位基因上存在Hb Hinwil突变。我们讨论了这种罕见病症的诊断、临床、预后和治疗方面，强调由于文献中缺乏类似报道，在选择治疗方案时极其困难。
