[在一名斯洛伐克女孩中检测到不稳定的圣安娜血红蛋白或α2β2 88（F4）亮氨酸-脯氨酸]
[Unstable Santa Ana hemoglobin or alpha 2 beta 2 88 (F4) Leu-Pro detected in a Slovak girl].
作者信息
Divoký V, Hammerová T, Sakalová A, Luhový M, Divoká M, Melichárková R, Indrák K
机构信息
Hematologická klinika FN a LF UP, Olomouc.
出版信息
Vnitr Lek. 1996 Apr;42(4):258-61.
The unstable haemoglobin variant Ana (alpha 2 beta 2 88 (F4) Leu-Pro) was identified to cause haemolysis in a 10-year-old Slovak girl. She was followed for haemolytic anaemia symptoms since two years of age. Clinical signs are hepatosplenomegaly and moderate haemolytic anaemia not requiring blood transfusions. It is the first case of an unstable haemoglobinopathy found in Slovak Republic as far as we know. Hypothesis of 'de novo' origin of the mutation in the propositus is supported by the parents' and brother's laboratory findings.
不稳定血红蛋白变异体Ana（α2β2 88（F4）Leu-Pro）被确定为一名10岁斯洛伐克女孩溶血的病因。她从两岁起就因溶血性贫血症状接受随访。临床体征为肝脾肿大和中度溶血性贫血，无需输血。据我们所知，这是斯洛伐克共和国发现的首例不稳定血红蛋白病病例。先证者中该突变“从头”起源的假说得到了其父母和兄弟实验室检查结果的支持。
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