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Hemoglobin Lepore syndrome or Hb Lepore syndrome (Hb Lepore) is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation. The Hb Lepore variant, consisting of two normal alpha globin chains (HBA) and two deltabeta globin fusion chains which occurs due to a "crossover" between the delta (HBD) and beta globin (HBB) gene loci during meiosis and was first identified in an Italian family in 1958.〔Gerald P.S., Diamond L.K. A new hereditary hemoglobinopathy (the Lepore trait) and its interaction with thalassemia trait. Blood. 1958 Sep;13(9):835-44. PMID 13572441〕 There are three varieties of Hb Lepore, Washington (Hb Lepore Washington, AKA Hb Lepore Boston or Hb Lepore Washington-Boston), Baltimore (Hb Lepore Baltimore) and Hollandia (Hb Hollandia). All three varieties show similar electrophoretic and chromatographic properties and hematological findings bear close resemblance to those of the beta-thalassemia trait; a blood disorder that reduces the production of the iron-containing protein hemoglobin which carries oxygen to cells and which may cause anemia. The homozygous state for Hb Lepore is rare. Patients of Balkan descent tend to have the most severe presentation of symptoms including severe anemia during the first five years of life. They also presented with significant splenomegaly, hepatomegaly, and skeletal abnormalities identical to those of homozygous beta-thalassemia. The amount of Hb Lepore in the patients blood ranged from 8 to 30%, the remainder being fetal hemoglobin (Hb F) which is present in minute quantities (typically<1 percent) in the red blood cells of adults. Known as F- cells they are present in a small proportion of overall RBCs. Homozygous Hb Lepore is similar to beta-thalassemia major; however, the clinical course is variable. Patients with this condition typically present with severe anemia during the first two years of life. The heterozygote form is mildly anemic (Hb 11-13 g/dl) but presents with a significant hypochromia (deficiency of hemoglobin in the red blood cells) and microcytosis. ==Diagnosis== The diagnosis of Hb Lepore syndrome may be performed antenatally or postnatally via the use of a variety of tests *Complete blood count (CBC) *Cation Exchange High-performance liquid chromatography (CE-HPLC): a chromatographic technique used to separate and quantify various normal and abnormal hemoglobin components in blood. *Hemoglobin electrophoresis *DNA analysis: 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hemoglobin Lepore syndrome」の詳細全文を読む スポンサード リンク
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