Persistent Iron and Folate Deficiency in a Patient with Deletional Hereditary Persistence of Fetal Hemoglobin; the Effect on the Relative Levels of HB F and ^Gγ Chains and the Corresponding mRNAS

Abstract

We describe a Black female who has suffered for many years from an (often) severe anemia (Hb 5–9 g/dl) with iron deficiency (serum Fe 8 μg/dl; TIBC 462 μg/dl; ferritin 7 ng/ml or less) and folate deficiency. The patient had hypermenorrhea which was appropriately treated resulting in an increase in hemoglobin level but not affecting the Fe deficiency. Splenomegaly was present, perhaps resulting from a clay-eating habit, although this was consistently denied. The patient had an α-thalassemia-2 (-3.7 kb) trait and a deletional hereditary persistence of fetal hemoglobin (HPFH) (type II) which were inherited from her father. Over the last six years the level of Hb F varied between 8.5 and 16% (25–29% in the father), while the ^Gγ value was also low (15–22% versus 32–34% in the father). Comparable reductions were seen in the relative levels of γ-mRNA and γ-mRNA. These data support results published by Adams et al (Ref. 8) who showed a severe reduction in Hb F level in another HPFH heterozygote with Fe deficiency; these investigations suggested that a reduction in α-globin synthesis resulted in preferential formation of αβ dimers rather than αγ dimers. Our data suggest that the decrease of Hb F and ^Gγ levels is due to a reduction in γ-mRNA formation, mainly of the ^Gγ type, rather than through a posttranslational mechanism alone.