Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
Pediatr Blood Cancer
; 50(2): 363-6, 2008 Feb.
Article
en En
| MEDLINE
| ID: mdl-16732578
ABSTRACT
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).
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Globinas
/
TATA Box
/
Talasemia beta
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Estados Unidos