Hemoglobin Lepore

The Lepore globin gene resulted from a "crossover" between the delta and beta globin gene loci. The resultant hemoglobin Lepore has 2 normal alpha chains and 2 delta beta fusion chains. Hb Lepore has a worldwide distribution in many racial groups. It has been found in individuals from many different populations including Italians, Greeks, Yugoslavians, Rumanians, Turkish Cypriots, African Americans, Indians and Papuans.

Three varieties of Hb Lepore have been defined and are named Boston, Baltimore and Hollandia. They all have similar electrophoretic and chromatographic properties. On cellulose acetate electrophoresis at pH 8.4, Hb Lepore migrates very slightly faster than sickle hemoglobin but the band is very light. On citrate agar electrophoresis, Hb Lepore migrates with HbA

Clinical picture:

• Hb Lepore trait (A/HbLepore) is an asymptomatic condition. HbLepore is synthesized in a reduced amount; levels of Hb Lepore in heterozygotes range from 5 to 15%. Hematological findings are very similar to those of beta-thalassemia trait. A mean hemoglobin value of 12.2 g/dl has been reported compared to 15.1 g/dl for a control group. MCH and MCV are reduced. Slightly elevated levels of HbF (2-3%) are seen in Lepore heterozygotes (normal HbF levels=1-2%).
• Very few cases for the homozygous state for Hb Lepore have been observed. Those that have been adequately documented show remarkable variability in the severity of their clinical manifestations. The most seriously affected patients were those of Yugoslavian origin. These patients presented with severe anemia (4 to 7 g/dl) in the first five years of life. There was significant splenomegaly, hepatomegaly, and skeletal abnormalities indistinguishable from those of homozygous beta-thalassemia. Regular transfusion was required. The amount of Hb Lepore ranged from 8 to 30 %, the remainder being Hb F.
• Lepore/beta-thalassemia is analogous to beta-thalassemia major, although the clinical course is variable. Individuals with this condition present with severe anemia during the first two years of life. With frequent transfusions to maintain a hemoglobin level above 11g/dl, normal growth and development can occur. Accumulation of iron from transfusion however must be controlled by chelation therapy. Splenectomy is often necessary.

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