Thalassemia minor associated with hemoglobin-B2 heterozygosity. A family report.
Thalassemia minor associated with hemoglobin-B2 heterozygosity. A family report.
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轻度地中海贫血与血红蛋白-B2 杂合性相关。
DOI：
10.1182/blood.v17.6.747.747
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发表时间：
1961
期刊：
影响因子：
20.3
通讯作者：
J. Schaad
中科院分区：
文献类型：
--
作者：
TITUS H. J. Huisman;K. Punt;J. Schaad
1.在14名成员的26例家庭起源于地中海贫血的双重杂合性（地中海贫血和异常的次要成分Hb-B2）被证明。地中海贫血杂合子携带者或单独Hb-B2异常的杂合子个体未出现。
2.轻型地中海贫血的诊断是基于血液学数据。使用常规电泳和色谱技术以及指纹法将这些病例中存在的异常次要Hb组分鉴定为Hb-B2（异常Hb-A2）。在这些地中海贫血杂合子携带者中，两种次要血红蛋白组分（Hb-A2和Hb-B2）的百分比加倍，它们的总和与大多数地中海贫血特征病例中典型的高水平Hb-A2相似。
3.本文讨论了轻型地中海贫血（基因型：tT）与Hb-B2杂合性（基因型：A2/B2）的遗传关系。该家系的数据提示t-T和A_2/B_2基因座的紧密连锁。
1. In 14 members of 26 cases of a family originating from Surinam a double heterozygosity (for thalassemia and for the abnormal minor component Hb-B2) was demonstrated. Thalassemia heterozygous carriers or individuals heterozygous for the Hb-B2 abnormality alone were not encountered.
2. The diagnosis of thalassemia minor was based on hematologic data. The abnormal minor Hb-component present in these cases was identified using the conventional electrophoretic and chromatographic technics and the fingerprinting method as being Hb-B2 (an abnormal Hb-A2). The percentages of the two minor Hb-fractions (Hb-A2 and Hb-B2) in these thalassemia heterozygous carriers are doubled, their sum being similar to the high level of Hb-A2 typical for most cases of thalassemia trait.
3. The genetic relationship between thalassemia minor (genotype: tT) and Hb-B2 heterozygosity (genotype: A2/B2) is discussed. The data on this pedigree are suggestive of a close linkage of the t-T and A2/B2-loci.