title: 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 G gamma 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 microg/dl; TIBC 462 microg/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 alpha-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 G gamma value was also low (15-22% versus 32-34% in the father). Comparable reductions were seen in the relative levels of gamma-mRNA and G gamma-mRNA. These data support results published by Adams et al who showed a severe reduction in Hb F level in another HPFH heterozygote with Fe deficiency; these investigations suggested that a reduction in alpha-globin synthesis resulted in preferential formation of alpha beta dimers rather than alpha gamma dimers. Our data suggest that the decrease of Hb F and G gamma levels is due to a reduction in gamma-mRNA formation, mainly of the G gamma type, rather than through a posttranslational mechanism alone.
authors.affiliation: Obstetrics-Gynecology, St. Elizabeth Hospital Curaçao, The Netherlands Antilles.
authors.forename: H
authors.initials: H
authors.lastname: Landman
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D018798:Anemia, Iron-Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D005494:Folic Acid Deficiency / Q000097:blood / Q000235:genetics*; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D010842:Pica; D012333:RNA, Messenger / Q000097:blood / Q000378:metabolism*; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D005914:Globins; D005319:Fetal Hemoglobin