Hemoglobin sickle-Lepore: report of two siblings and review of the literature.
Hemoglobin Lepore is composed of two normal alpha-globin chains and two delta-beta fusion globin chains that result from nonhomologous crossing over of genetic material during meiosis. The doubly heterozygous condition of sickle hemoglobin with Lepore hemoglobin (Hb S-Lepore) is rare, having been described previously in only nine patients. We report two siblings with Hb S-Lepore who have similar hematologic characteristics but a marked difference in clinical severity.
Seward
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Medicine-Pediatrics Residency Program, Duke University Medical Center, Durham, North Carolina 27710.
Ware
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Kinney
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D002648:Child; D004247:DNA / Q000032:analysis; D005914:Globins / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C083746:hemoglobin sickle-Lepore; D005914:Globins; D004247:DNA