title: A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease.
abstract: A new deletion of approximately 8.5 kb that includes the alpha 2-, alpha 1-, and theta 1-globin genes was detected in a father and newborn son of a black family from Georgia. In the newborn baby the chromosome with the deletion occurred together with a rightward (-alpha 3.7) deletion chromosome. The resulting Hb H disease was detected at birth by the high level of Hb Bart's; a moderate anemia with severe microcytosis and hypochromia was present at the age of 5 months. A review of cord blood testing results for a period of over 20 years, involving at least 200,000 black newborns, indicated that this baby was the first with a level of Hb Bart's in excess of 10-15%; this underscores the rarity of alpha-thalassemia-1 in this population.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Fei
authors.forename: J C
authors.initials: JC
authors.lastname: Liu
authors.forename: E L
authors.initials: EL
authors.lastname: Walker
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D044383:Black People / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015183:Restriction Mapping; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; D006447:Hemoglobin H; C030448:hemoglobin Bart's