An unusual phenotypic expression of Hb-Leiden.
After a boy of Mexican-American descent became jaundiced during treatment of a serious urinary tract infection with an oxidant drug, an extensive hematological examination was made. The important finding was the presence of Hb-Leiden to the extent of less than 3% or about a tenth of the usual percentage. Although inclusion bodies are present in the erythrocytes at all times, his hematological parameters have remained normal. The genetic basis for the unusually small amount of Hb-Leiden in the propositus may be due to the Hb-Leiden gene in an anti-Lepore configuration, that is, and Hb-Leiden gene in cis to the normal beta and delta genes.
D000743:Anemia, Hemolytic / Q000097:blood / Q000209:etiology*; D002648:Child; D006453:Hemoglobinopathies / Q000150:complications* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D010621:Phenazopyridine / Q000009:adverse effects; D010641:Phenotype; D011512:Proteus Infections / Q000150:complications; D014552:Urinary Tract Infections / Q000150:complications
D006455:Hemoglobins, Abnormal; C029445:hemoglobin Leiden; D010621:Phenazopyridine