Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued.

中文翻译：

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在先天性溶血性贫血与脑畸形相关的婴儿中发现了新的COL4A1突变

通过全外显子组测序分析了19例未诊断的溶血性贫血的遗传原因，并在4例（21％）患者中发现了新的COL4A1变异。所有患者均合并有先天性畸形，如孔脑或裂脑畸形。在这些患者中，出生后2个月内溶血变得不太严重，并且50天后不再需要输注红细胞，而慢性溶血仍在继续。