β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion

AbstractAn 8‐year‐old African‐American boy had a clinical history consistent with mild β‐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 A2 = 5.0%, and Hb F = 56.1%. At age 8 years, he was diagnosed to be a compound heterozygote for two β‐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 β‐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 A2. Pediatr Blood Cancer 2008;50:363–366. © 2006 Wiley‐Liss, Inc.

β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion Journal Articles