Schaison G, Leverger G, Vidaud M
Arch Fr Pediatr. 1985 Oct;42(8):709-11.
Double heterozygotism Hb E-beta zero thalassemia was discovered in two children born to an Alaouite Syrian family. Clinical, biological and radiological findings were similar to those in Cooley disease. Splenectomy allowed reduction in the frequency of blood transfusions. Hb E disease is frequent in South East Asia and results in a mild hemolytic anemia in homozygous patients. Hb E disease is a thalassemia syndrome with decrease production of beta E RNA messenger, and imbalanced alpha/beta E chains. Association with the thalassemia gene increases the imbalanced of chain synthesis explaining the severity of the disease. These were the first cases of Hb E-thal in Syria.
在一个阿拉维派叙利亚家庭出生的两名儿童中发现了双重杂合子Hb E-β0地中海贫血。临床、生物学和放射学检查结果与库利氏病相似。脾切除术减少了输血频率。Hb E病在东南亚很常见，纯合子患者会出现轻度溶血性贫血。Hb E病是一种地中海贫血综合征，βE RNA信使生成减少，α/βE链失衡。与地中海贫血基因相关会增加链合成的失衡，这解释了该病的严重性。这些是叙利亚首例Hb E-地中海贫血病例。
