由血红蛋白托里诺（α43(CD1)位苯丙氨酸被缬氨酸取代）引起的药物性溶血性贫血。意大利一个家族中的第二例发现。

A drug-induced haemolytic anaemia due to Hb Torino (alpha43(CD1)Phe replaced by Val). second finding in an Italian family.

作者信息

Sansone G, Sciarratta G V, Lang A, Lorkin P A, Lehmann H

出版信息

Acta Haematol. 1976;56(4):225-33. doi: 10.1159/000207942.

DOI:10.1159/000207942

Abstract

The unstable haemoglobin, Tb Torino (alpha43(CD1)Phe replaced by Val), has been found for the second time in a family from the Treviso region of Italy. The haemoglobin has a slightly lower oxygen affinity than normal. In both cases, the abnormal haemoglobin is associated with inclusion body anaemia but the course of the disorder in the present case is much less severe than that previously reported. The oxygen affinity of the haemolysate has been measured and been found lower than normal.

摘要

不稳定血红蛋白Tb Torino（α43(CD1)位的苯丙氨酸被缬氨酸取代）在意大利特雷维索地区的一个家族中再次被发现。该血红蛋白的氧亲和力略低于正常水平。在这两个病例中，异常血红蛋白均与包涵体贫血相关，但本病例中疾病的进程比先前报道的要轻得多。已对溶血产物的氧亲和力进行了测量，发现其低于正常水平。