A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait.
A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait.
复制标题
黑人胎儿血红蛋白遗传持续性的一种新形式及其与镰状细胞特征的关联。
作者：
G. Stamatoyannopoulos;W. Wood;T. Papayannopoulou;P. Nute
在对一个黑人家系的研究中，发现了一种新的遗传性胎儿血红蛋白持续存在（HPFH），其杂合子中产生3%~ 8%HbF，并经Kleihauer试验和抗体荧光法测定，F细胞计数升高。患有这种异常的人也具有镰状细胞特征。一个镰状细胞纯合子谁显然继承了HPFH决定簇有20.3%的血红蛋白F。这两种类型的γ-链存在于这些人的血红蛋白F中的比例相等。一项人口研究显示，其他AS个体的Hb F合成增加，其中三人是同胞。这种以前未被认识的HPFH形式的存在可能解释了镰状细胞纯合子的轻度临床表现和血红蛋白表型与Hb F的异常升高。
A new form of hereditary persistence of fetal hemoglobin (HPFH) producing 3%-8% Hb F in heterozygotes and an elevation of F-cell counts as measured by both the Kleihauer test and an antibody fluorescent procedure was found during the study of a black family. Individuals with this anomaly also had sickle cell trait. A sickle cell homozygote who had apparently inherited the HPFH determinant had 20.3% Hb F. Both types of gamma-chains were present in equal proportions in the Hb F of these individuals. A population study revealed other AS individuals with increased Hb F synthesis, three of whom were sibs. The presence of this previously unrecognized form of HPFH might explain the mild clinical manifestations and the hemoglobin phenotypes of sickle cell homozygotes with unusual elevations of Hb F.