Compound heterozygosity for a mild beta (+) and a rare  beta(0)-thalassemia allele.
Hematological and hemoglobin composition data are presented for 14 members of a Surinam family (and for 1 unrelated subject) with either a beta-thalassemia heterozygosity [5 with the -29 (A----G) beta + mutation and 5 with the IVS II-849 (A----G) beta(0) mutation] or a compound heterozygosity (the 5 remaining patients). Identification of the mutation was by hybridization of amplified DNA with 32P-labelled synthetic oligonucleotides. The data indicate distinct differences between the two groups of heterozygotes, mainly in degree of microcytosis and hypochromia, in Hb A2 level, and in the level of G gamma (high in the -29 heterozygotes and low in the IVS II-849 heterozygotes). The 5 compound heterozygotes had a thalassemia intermedia with high Hb F levels (high G gamma), elevated Hb A2, and Hb A levels comparable to those seen in patients with a homozygosity for the -29 mutation or with the combination of this beta(+)-thalassemia and Hb S. An alpha-thalassemia-2 heterozygosity (-3.7 kb deletion) was present in 2 patients. Their hematological data were improved over those for the patients with four alpha globin genes; one was the mother of two sets of twins. The high G gamma value in the Hb F of the compound heterozygotes suggests that the high Hb F production in the condition is mainly directed by the chromosome with the -29 (A----G) mutation.
Codrington
J
J
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta.
Anijs
J
J
Wisse
J H
JH
Codrington
F A
FA
Li
H W
HW
Kutlar
F
F
Ramachandran
M
M
Huisman
T H
TH
D000328:Adult; D000368:Aged; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D006403:Hematologic Tests; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013532:Suriname; D013789:Thalassemia / Q000235:genetics*
D006454:Hemoglobins