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一种不稳定血红蛋白,Hb Tacoma β30(B12)精氨酸突变为丝氨酸,在出生时通过红细胞包涵体检测被发现。

An unstable haemoglobin, Hb Tacoma beta30 (B12) arg leads to ser, detected at birth by the demonstration of red cell inclusions.

作者信息

Deacon-Smith R A, Lee-Potter J P

出版信息

J Clin Pathol. 1978 Sep;31(9):883-7. doi: 10.1136/jcp.31.9.883.

Abstract

Incomplete expression of human haemoglobin beta-chains at birth may lead to difficulty in the early demonstration of an inherited beta-chain variant. In this case, the rare unstable variant, Hb Tacoma beta30 (B12) arg leads to ser, although not present in cord blood in sufficient amounts to be easily detected by routine electrophoretic techniques, was readily shown to be present by the striking inclusions provoked by prolonged incubation of the neonatal red cells with new methylene blue.

摘要

出生时人类血红蛋白β链表达不完全可能导致早期难以证实遗传性β链变异体。在本病例中,罕见的不稳定变异体Hb Tacoma β30(B12)精氨酸突变为丝氨酸,尽管在脐血中的含量不足以通过常规电泳技术轻易检测到,但通过将新生儿红细胞与新亚甲蓝长时间孵育引发的显著包涵体,很容易证明其存在。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b1c/1145434/574216b185f7/jclinpath00445-0077-a.jpg

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