撒丁岛的β⁰地中海贫血特征

Beta 0 thalassemia trait in Sardinia.

作者信息

Galanello R, Melis M A, Ruggeri R, Addis M, Scalas M T, Maccioni L, Furbetta M, Angius A, Tuveri T, Cao A

出版信息

Hemoglobin. 1979;3(1):33-46. doi: 10.3109/03630267909069153.

Abstract

The red cell indices and results of globin chain synthesis in peripheral blood of obligate beta 0 thalassemia (beta 0 thal) carriers (parents of homozygous beta 0 thal children) and beta thalassemia (beta thal) carriers identified during mass screening are reported. Red cell indices were similar in obligate beta 0 carriers and in carriers diagnosed during mass screening. However there was a higher incidence of anemia in female obligate beta 0 thal carriers. In Sardinia the beta 0 thal carrier showed the usual hematological characteristics of the high Hb A2 beta thal carrier with microcytosis, hypochromia, reduced osmotic fragility; Hb F greater than 1% was found in 30% of the carriers. With MCV, MCH, osmotic fragility test (OFT) and Shine and Lal discriminant function we found 3.5%, 1.5%, 3.5% and 4.0% respectively false negatives in carrier identification. A part from one subject, all obligate carriers had elevated Hb A2 levels. The alpha/beta ratio in obligate carriers (mean +/- SD) was 1.83 +/- 0.26 (N = 30).

摘要

报告了纯合子β0地中海贫血（β0地贫）患儿的父母（即β0地贫携带者）以及在大规模筛查中确诊的β地中海贫血（β地贫）携带者外周血中的红细胞指数和珠蛋白链合成结果。β0地贫携带者与大规模筛查中确诊的携带者的红细胞指数相似。然而，女性β0地贫携带者贫血的发生率更高。在撒丁岛，β0地贫携带者表现出高Hb A2β地贫携带者常见的血液学特征，即小红细胞、低色素、渗透脆性降低；30%的携带者Hb F大于1%。通过平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、渗透脆性试验（OFT）以及Shine和Lal判别函数，我们发现在携带者识别中假阴性率分别为3.5%、1.5%、3.5%和4.0%。除一名受试者外，所有β0地贫携带者的Hb A2水平均升高。β0地贫携带者的α/β比值（均值±标准差）为1.83±0.26（N = 30）。