A novel genetic element controlling adult hemoglobin production

血液蛋白质血红蛋白紊乱是世界范围内最常见的遗传性疾病，包括地中海贫血和镰状细胞病。在这项提议中，我们研究了两种新的小鼠品系，它们表现出地中海贫血，但缺乏任何已知的导致这种疾病的基因突变。这些小鼠为我们提供了对血红蛋白如何产生进行独特观察的机会，从而为这些破坏性血液疾病的新治疗方法提供了平台。

Disorders of the blood protein hemoglobin are the commonest genetic diseases worldwide, and include thalassemia and sickle cell disease. In this proposal we study two novel mouse lines that exhibit thalassemia, but lack any of the known genetic mutations that cause this disease. These mice afford us the opportunity to make unique observations into how hemoglobin is produced, and thereby provide a platform for new therapeutic approaches in these devastating diseases of the blood.