We have identified 7 patients with Hb H disease as homozygotes for a mutation in the polyadenylation site (AATAAA → AATAAG) and have compared their hematological data with those of Hb H patients having other types of α-thalassemia determinants. All 7 patients exhibited moderate anemia with microcytosis and hypochromia being similar to that observed in the other patients. Relatives with a heterozygosity for this mutation are borderline microcytic and hy-pochromic without a significant anemia but with a low in vitro α/β chain synthesis ratio. Analyses of the hemoglobin components identified low levels of Hb A2 and Hb H that were comparable to those found in other patients with Hb H disease; the level of the ζ-chain was low (average 0.14%).
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© 1992 S. Karger AG, Basel
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