Sickle cell disease in a carrier with pyruvate kinase deficiency
Sickle cell disease in a carrier with pyruvate kinase deficiency
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DOI：
10.1179/102453308x343536
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发表时间：
2008-12-01
期刊：
影响因子：
1.9
通讯作者：
Thein, Swee Lay
中科院分区：
文献类型：
--
作者：
Alli, Nazeer;Coetzee, Marius;Thein, Swee Lay
我们报告了一例镰状细胞病(SCD)的患者，他是镰状突变的携带者，没有β珠蛋白基因的额外突变。对PK-LR基因的测序表明，她也是第7外显子L272V突变的杂合子，这是已知导致丙酮酸激酶(PK)缺乏症的原因。在这种罕见的情况下，杂合子状态下的镰刀状似乎与与PK缺乏相关的氧亲和力降低有关。
We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the beta globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.