[Association of hemoglobin E and thalassemia].
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.
D002648:Child; D006446:Hemoglobin E / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013593:Syria / Q000208:ethnology; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E
L'association hémoglobinose E-thalassémie (E-thal).