与遗传的血红蛋白相关的De-novo ATR-16综合征埃文斯顿导致HbH表型:一种罕见的情况

Ekta Jajodia1, Hemant Menghani2, Neeraj Arora1

  • 1Molecular Genetics, Unipath Specialty Laboratory, Ahmedabad, Gujarat, India.

Annals of hematology
|July 11, 2024
PubMed
概括

这项研究报告了一种罕见的血红蛋白H (HbH) 疾病病例,该病例是由阿尔法环球蛋白基因的新缺失和遗传点突变引起的. 这些发现突出了阿尔法血症中复杂的遗传相互作用.

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