Pathophysiology of Compound Heterozygotes Involving Hemoglobinopathies and Thalassemias

摘要

Hemoglobinopathies and thalassemias are both hematologic diseases involving mutations in the genes that control the synthesis of globin chains that compose hemoglobin. Some hematologists use the term hemoglobinopathy to describe any hemoglobin disorder to include the hemoglobin variants (e.g., sickle cell) and thalassemia. Other hematologists use the term hemoglobinopathy to describe only the qualitative hemoglobin variants and the term thalassemia to describe disorders producing a quantitative reduction in hemoglobin synthesis. The latter approach will be used in this review.