血红蛋白高结合α0-thalassemia:诊断挑战和洞察力从三组基于整体外体组序列的测序

Hung-Lin Liu1, Wan-Ting Huang2,3,4,5

  • 1Department of Internal Medicine, Hematology-Oncology Division, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, 80145, Taiwan.

Annals of hematology
|November 25, 2025
PubMed
概括

这项研究详细介绍了东亚患者的第一个基因确认的血红蛋白苏雷斯因与α-thalassemia共同遗传的病例. 整体外基因组测序对于准确诊断这种罕见的血红蛋白变体至关重要.

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