title: [Acquired hemoglobin H disease in the early stage of erythroleukemia].
abstract: At the onset of erythroleukemia, the patient, a 74-year-old Swiss male, was also found to have microcytic-hypochromic anemia (Hb: 82 g/l, MCV: 69 fl, MCH: 21 pg). Further laboratory examinations revealed reduced hemoglobin stability, a hemoglobin H fraction of 3.0% on cellulose acetate-electrophoresis, and an abundance of hemoglobin H inclusion bodies in red cells. These findings, as well as the Swiss origin of the patient and his age at the onset of the disease, were consistent with acquired hemoglobin H disease. In addition to genetic hemoglobin H disease, acquired hemoglobin H disease was reported to be associated with myelodysplastic and myeloproliferative syndrome, or erythroleukemia and acute myelogenous leukemia. The literature contains fewer than 50 cases. It is suggested that the molecular basis of this rare disease involves a gene in trans to the alpha-globin genes reducing the expression of all four alpha-globin genes to approximately 10% of normal activity.
authors.affiliation: Zentrallaboratorium, Kantonsspital Aarau.
authors.forename: W
authors.initials: W
authors.lastname: Bürgi
authors.forename: P
authors.initials: P
authors.lastname: Schlup
authors.forename: K A
authors.initials: KA
authors.lastname: Deubelbeiss
authors.forename: S
authors.initials: S
authors.lastname: Fischer
authors.forename: D
authors.initials: D
authors.lastname: Killer
mesh_terms: D000368:Aged; D000747:Anemia, Hypochromic / Q000097:blood / Q000150:complications*; D006447:Hemoglobin H / Q000032:analysis*; D006801:Humans; D002479:Inclusion Bodies; D004915:Leukemia, Erythroblastic, Acute / Q000097:blood* / Q000150:complications; D008297:Male
chemical_list: D006447:Hemoglobin H
vernacular_title: Erworbene Hämoglobin H-Krankheit im Frühstadium einer Erythroleukämie.