Obstet Gynecol. 2005 Jul;106(1):203-10. doi: 10.1097/00006250-200507000-00052.
The hemoglobinopathies are a heterogeneous group of single-gene disorders that include the structural hemoglobin variants and the thalassemias. More than 270 million people worldwide are heterozygous carriers of hereditary disorders of hemoglobin, and at least 300,000 affected homozygotes or compound heterozygotes are born each year (1). The purpose of this document is to review the most common hemoglobinopathies and to provide recommendations for the screening and clinical management of hemoglobinopathies during pregnancy.
血红蛋白病是一组异质性单基因疾病,包括结构性血红蛋白变异体和地中海贫血。全球超过2.7亿人是血红蛋白遗传性疾病的杂合子携带者,每年至少有30万受影响的纯合子或复合杂合子出生(1)。本文的目的是回顾最常见的血红蛋白病,并为孕期血红蛋白病的筛查和临床管理提供建议。