Premium
Hb lulu island (α 2 β 2 107[G9]Gly→Asp)‐β°‐thalassemia (codon 15; TGG → TAG), a form of thalassemia intermedia
Author(s) -
Gray G. R.,
Manson H. E.,
Gu LH.,
Ye. Leonova J.,
Huisman T. H. J.
Publication year - 1995
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830500106
Subject(s) - thalassemia , hemoglobinopathy , microbiology and biotechnology , allele , compound heterozygosity , hemolytic anemia , red cell , biology , red blood cell , loss of heterozygosity , genetics , gene , chemistry , medicine , biochemistry , immunology
Abstract Hb Lulu Island [β107(G9)Gly → Asp] was discovered in an East Indian female who carried a common β°‐thalassemia allele, i.e., codon 15, TGG → TAG (is a stop codon) in trans . Both abnormalities were detected through sequencing of the amplified β‐globin genes and were confirmed by hybridization with 32 P‐labeled probes. Hb Lulu Island is mildly unstable with a borderline decrease in oxygen affinity; its instability is less severe than that of Hb Burke or β107(G9)Gly → Arg. The compound heterozygosity expresses as a thalassemia intermedia with moderate anemia, a variable need for blood transfusions, Heinz body formation, and a red cell morphology which is typical for such a condition. The level of HbA 2 was greatly increased (6.5–7.0%) as was the δ chain level (12% of total non‐α) probably because of the instability of Hb Lulu Island and the decreased ability of the β x chain to form dimers with the normal α chain.