Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
An 8-year-old African-American boy had a clinical history consistent with mild beta-thalassemia intermedia with moderate anemia, microcytosis, reticulocytosis, and splenomegaly. He was asymptomatic and did not require transfusion. At age 4 years, hemoglobin (Hb) electrophoresis showed Hb A = 37.8%, Hb A(2) = 5.0%, and Hb F = 56.1%. At age 8 years, he was diagnosed to be a compound heterozygote for two beta-globin gene promoter mutations, the relatively common nucleotide (nt) -88 C --> T mutation from the cap site, and a novel two-nucleotide (AA) deletion between nt -29 and -26 within the TATA box of the beta-globin gene. His mother and 14-year-old brother were simple heterozygotes for this novel (AA) deletion. Both heterozygotes had normal Hb level, borderline microcytosis, and elevated Hb A(2).
Basran
Raveen K
RK
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA.
Reiss
Ulrike M
UM
Luo
Hong-Yuan
HY
Ware
Russell E
RE
Chui
David H K
DH
D002648:Child; D004247:DNA / Q000097:blood; D005192:Family Health; D017353:Gene Deletion; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D011401:Promoter Regions, Genetic; D016385:TATA Box / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004247:DNA