hemoglobin Lepore

he·mo·glo·bin Le·pore

[MIM*142000-various] a group of abnormal Hb's with normal α chains, but the non-α chains consist of the N-terminal portion of the δ chain joined to the C-terminal portion of the β chain, apparently as the result of nonhomologous pairing and crossing over between the genes for β and δ chains. The major types are Hb Lepore_Boston (identical to Hb Lepore_Washington), Hb Lepore_Hollandia, and Hb Lepore_Baltimore, which differ in the region of crossing over (δ87-β116, δ22-β50, and δ50-β86, respectively). Heterozygotes form about 10% Hb Lepore, normal amounts of Hb A₂, and moderately increased amounts of Hb F and usually have mild anemia, microcytosis, and hypochromia; homozygotes form only Hb Lepore and Hb F and have severe anemia. Compare: hemoglobin anti-Lepore. [named for the family in which the variant was first discovered]

hemoglobin Lepore

A variant hemoglobin formed by an unequal crossover and fusion of the beta and delta genes. A single copy of the variant gene causes thalassemia minor. Homozygotes have thalassemia intermedia. See also: hemoglobin

单词	hemoglobin lepore
释义	DictionarySeehemoglobin hemoglobin Lepore he·mo·glo·bin Le·pore [MIM*142000-various] a group of abnormal Hb's with normal α chains, but the non-α chains consist of the N-terminal portion of the δ chain joined to the C-terminal portion of the β chain, apparently as the result of nonhomologous pairing and crossing over between the genes for β and δ chains. The major types are Hb Lepore_Boston (identical to Hb Lepore_Washington), Hb Lepore_Hollandia, and Hb Lepore_Baltimore, which differ in the region of crossing over (δ87-β116, δ22-β50, and δ50-β86, respectively). Heterozygotes form about 10% Hb Lepore, normal amounts of Hb A₂, and moderately increased amounts of Hb F and usually have mild anemia, microcytosis, and hypochromia; homozygotes form only Hb Lepore and Hb F and have severe anemia. Compare: hemoglobin anti-Lepore. [named for the family in which the variant was first discovered] hemoglobin Lepore A variant hemoglobin formed by an unequal crossover and fusion of the beta and delta genes. A single copy of the variant gene causes thalassemia minor. Homozygotes have thalassemia intermedia. See also: hemoglobin
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