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在一个同时存在α和β地中海贫血的家庭中发现血红蛋白塞蒂夫及体外假性镰变现象。

Hemoglobin Setif and in vitro pseudosickling noted in a family with co-existent alpha and beta thalassemia.

作者信息

Raik E, Powell E, Fleming P, Gordon S

出版信息

Pathology. 1983 Oct;15(4):453-6. doi: 10.3109/00313028309085174.

Abstract

A Turkish Cypriot family was investigated for suspected heterozygous sickle cell disease, which had been reported in a maternal branch of the family resident in England. Two maternal grandparents were of African Negro origin. Pseudosickling was noted in members of the family who were found to have an abnormal hemoglobin fraction. This abnormal fraction proved to be Hemoglobin Setif (alpha 94 Asp leads to Tyr). Family studies demonstrated the presence of this hemoglobin in varying proportions in the mother and 2 of the 4 children. alpha and beta thalassemia traits are also present in several family members.

摘要

一个土族塞人家庭因疑似杂合子镰状细胞病接受调查,该病在居住在英国的家族母系分支中曾有过报道。两位外祖父母是非洲黑人血统。在被发现有异常血红蛋白组分的家族成员中发现了假性镰变。这种异常组分被证实是塞蒂夫血红蛋白(α94天冬氨酸突变为酪氨酸)。家族研究表明,母亲和4个孩子中的2个体内存在不同比例的这种血红蛋白。α和β地中海贫血性状也存在于几名家族成员中。

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