title: Combinations of three different forms of alpha-thalassemia in a large Indian family from Durban, South Africa: hematological observations.
abstract: We have identified three types of alpha-thalassemia in 28 members of an Indian family from Durban, South Africa. The rare South African (SA) type of alpha-thalassemia-1, which is characterized by an approximately 23-kb deletion involving the psi zeta, psi alpha 2, psi alpha 1, alpha 2, alpha 1, and theta 1 genes, was present in 13 members [6 simple heterozygotes, 5 with Hb H disease of the --(SA)/-alpha(-3.7 kb) type, and 2 with Hb H disease of the --(SA)/-alpha(-4.2 kb) type]. Seven others were heterozygotes for alpha-thalassemia-2 (-3.7 kb), 1 was homozygous for this deletion, and 1 was a compound heterozygote [-alpha(-3.7 kb/-alpha(-4.2 kb)]. Hematological and hemoglobin composition data indicated a moderate anemia in all 7 patients with Hb H disease with severe microcytosis and hypochromia, no elevation of gamma-chain synthesis, low levels of Hb A2 (0.3-0.7%), and low levels of Hb H. The most severe disease was present in 2 teenagers with the --(SA)/-alpha(-4.2 kb) combination.
authors.affiliation: Department of Cell 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: V B
authors.initials: VB
authors.lastname: Jogessar
authors.forename: K R
authors.initials: KR
authors.lastname: Westermeyer
authors.forename: R
authors.initials: R
authors.lastname: Bridgemohan
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004909:Erythrocyte Indices; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013019:South Africa; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D005914:Globins