HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
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DOI：
10.1111/j.1749-6632.1969.tb27774.x
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发表时间：
1969-01-01
影响因子：
5.2
通讯作者：
CONLEY, CL
中科院分区：
文献类型：
--
作者：
CHARACHE, S;CONLEY, CL
美国黑人胎儿血红蛋白的遗传性持续存在是一种良性异常，影响血红蛋白p链和6链的合成。杂合子的红细胞中血红蛋白A和A2的含量降低，但适量的Hb F可完全补偿这种缺陷，红细胞指数正常。在约翰霍普金斯医院对10，000名黑人的调查中，杂合子的发病率为0.270，而杂合子β地中海贫血的发病率约为0.7%。杂合子型地中海贫血更为常见，在巴尔的摩的黑人中有2%发生。虽然胎儿血红蛋白遗传性持续存在的杂合子状态与地中海贫血性状有一些表面上的相似性，但它不是地中海贫血的一种形式，当比较纯合子时，这两种疾病之间的差异被最清楚地描绘出来。唯一被认为是胎儿血红蛋白遗传性持续存在的纯合子的人，自9年前出生以来一直在我们的观察之下。他的生长和成熟完全正常，他没有表现出纯合子p地中海贫血的骨骼异常特征，他的红细胞在血涂片上只显示出轻微的异常。β地中海贫血基因的杂合子携带者可能轻微贫血;胎儿血红蛋白遗传性持续存在基因的携带者红细胞压积值正常。β-地中海贫血纯合子有严重贫血;胎儿血红蛋白遗传持续性纯合子是红细胞增多症（表1）。他的红细胞压积值比巴尔的摩同龄正常黑人儿童的平均红细胞压积值高出两个标准差以上。正常数据选自约翰霍普金斯医院综合儿童护理诊所的文件;所有对照组均明显健康，平均红细胞血红蛋白浓度均高于32 gm/100 ml。纯合子儿童的轻度红细胞增多症可由其红细胞的异常高氧亲和力解释。他的血液比脐带血的亲和力更高。6进行研究以确定高氧亲和力的原因。
Hereditary persistence of fetal hemoglobin in American Negroes is a benign anomaly affecting synthesis of both the p and the 6 chains of hemoglobin. Red cells of heterozygotes contain decreased amounts of hemoglobins A and A2, but complete compensation for the deficit is produced by appropriate amounts of Hb F, and red cell indices are normal.'In a survey of 10,000 Negroes at The Johns Hopkins Hospital, the incidence of the heterozygous condition was 0.270, whereas that of heterozygous (3 thalassemia was approximately 0.7%. Heterozygous a thalassemia is much more common, occurring in 2% of Negroes in Baltimore. Although the heterozygous state of hereditary persistence of fetal hemoglobin bears some superficial resemblances to the thalassemia trait, it is not a form of thalassemia, and the differences between the two disorders are most clearly delineated when homozygotes are compared.The only person recognized to be homozygous for hereditary persistence of fetal hemoglobin has been under our observation since his birth nine years ago. His growth and maturation have been entirely normal, he shows none of the skeletal abnormalities characteristic of homozygous p thalassemia, and his red cells show only minor abnormalities on blood smears. Heterozygous carriers of the gene for/3 thalassemia may be slightly anemic; carriers of the gene for hereditary persistence of fetal hemoglobin have normal hematocrit values. Beta-thalassemia homozygotes have profound anemia; the homozygote for hereditary persistence of fetal hemoglobin is polycythemic (TABLE I). His hematocrit value is more than two standard deviations above the mean hematocrit value of normal Negro children of his age in Baltimore. The normal data were selected from the files of the Comprehensive Child Care Clinic of The Johns Hopkins Hospital; all controls were apparently healthy, and all had mean corpuscular hemoglobin concentrations above 32 gm/100 ml. Mild polycythemia in the homozygous child can be accounted for by the abnormally high oxygen affinity of his red cells. His blood has a higher affinity than that of umbilical cord blood. 6 Studies were conducted to determine the cause of the high oxygen affinity.