科学家通过全外显子测序技术在MAL基因中发现遗传变异，揭开了困扰医学界超过50年的AnWj血型抗原之谜1。该发现由英国国家血液及移植服务机构、国际血型参考实验室和布里斯托大学合作完成，国际输血学会随后将MAL正式确认为第47个官方血型系统ISBT 0471。
AnWj抗原自1972年被首次发现以来，其遗传来源一直未知1。研究表明，超过99.9%的人口携带该抗原（AnWj阳性），而极其罕见的AnWj阴性患者由MAL基因的纯合缺失引起1。研究团队通过分析5名遗传学上AnWj阴性的个体（包括一个阿拉伯以色列家族成员）确定，缺失该基因导致红细胞表面无法产生携带AnWj抗原的Mal蛋白1。
这一发现为临床实践带来重要意义。基因型检测现可用于识别AnWj阴性患者和献血者，从而预防潜在的危险输血反应1。2026年报告的两个临床案例进一步凸显了AnWj阴性与输血并发症之间的复杂性1。
Researchers have solved a decades-long mystery by pinpointing the genetic origin of the AnWj blood group antigen, a discovery that establishes a new official blood type system and enables safer transfusions for extremely rare individuals.1 The AnWj antigen was first identified in 1972, but its hereditary foundation remained unknown for over 50 years until scientists employed whole-exome sequencing to trace it to mutations in the MAL gene.1
The international team, comprising researchers from NHS Blood and Transplant, the International Blood Group Reference Laboratory, and the University of Bristol, found that homozygous deletions in the MAL gene result in the AnWj-negative phenotype.1 More than 99.9 percent of the global population carries the AnWj antigen, making AnWj-negative individuals extraordinarily scarce.1 The Mal protein produced by the MAL gene displays the AnWj antigen on red blood cell surfaces.1 The study examined five genetically confirmed AnWj-negative individuals, including members of an Arab-Israeli family.1 The International Society of Blood Transfusion formally recognized MAL as ISBT 047, the 47th official blood type system.1
Genetic testing can now identify AnWj-negative patients and blood donors, helping clinicians prevent potentially serious transfusion complications for this vulnerable population.1 Two clinical cases documented in 2026 illustrated the complexities that arise when AnWj-negative individuals receive transfusions.1
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