Aplastic crisis revealing the diagnosis of Hb Evans [alpha62(E11)Val-->Met, GTG-->ATG (alpha2)] in a Hispanic kindred: case report and review.
This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [alpha62(E11)Val-->Met, GTG-->ATG (alpha2)], an unstable hemoglobin (Hb) variant due to a mutation in the alpha2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.
Steiner
Laurie A
LA
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520-8064, USA.
Van Hoff
Jack
J
Kutlar
Ferdane
F
Gallagher
Patrick G
PG
D000743:Anemia, Hemolytic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005190:Family; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006630:Hispanic or Latino; D006801:Humans; D009154:Mutation; D010322:Parvoviridae Infections / Q000150:complications; D016732:Parvovirus B19, Human
D006455:Hemoglobins, Abnormal; C062318:hemoglobin Evans