Sarnaik Sharada A
Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Sickle Cell Center, Children's Hospital of Michigan, Detroit, MI, USA.
Indian J Pediatr. 2005 Apr;72(4):319-24. doi: 10.1007/BF02724015.
Hemoglobinopathies are the most common single gene disorders in man. There are several hundred of these disorders though the thalassemias -- alpha and beta and the sickling disorders make up the vast majority. Recent advances in the understanding of the hemoglobin structure and the genetics of its synthesis has contributed significantly to the understanding of these diseases. Disorders include those with reduced globin synthesis, abnormal globin chains and failure to switch globin chain synthesis at the appropriate age. This review focuses on the clinical features, diagnosis and management strategies of the alpha and beta thalassemias, the sickling disorders and touches on a few rarer hemoglobinopathies. It also emphasizes prevention strategies and chronic transfusion safety in countries like India where there are limited resources.
血红蛋白病是人类最常见的单基因疾病。这类疾病有数百种,其中地中海贫血(α型和β型)以及镰状细胞疾病占了绝大多数。对血红蛋白结构及其合成遗传学认识的最新进展,极大地促进了对这些疾病的理解。这些疾病包括珠蛋白合成减少、异常珠蛋白链以及在适当年龄未能转换珠蛋白链合成的情况。本综述重点关注α型和β型地中海贫血、镰状细胞疾病的临床特征、诊断和管理策略,并涉及一些较为罕见的血红蛋白病。它还强调了在像印度这样资源有限的国家的预防策略和慢性输血安全性。