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J. Pediatr. Hematol. Oncol. · Apr 2018
Case ReportsA Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy.
- Anthony O Akinbami, Amy E Sobota, Hong-Yuan Luo, Chui David H K DHK Departments of Medicine., and Martin H Steinberg.
- Departments of Medicine.
- J. Pediatr. Hematol. Oncol. 2018 Apr 1; 40 (3): e145-e147.
Abstractβ thalassemia is characterized by a deficient production of functional β-globin chains and a relative excess of α-globin chains. An extremely diverse clinical spectrum-asymptomatic to transfusion-dependent-is primarily due to homozygosity or compound heterozygosity for the very large number of β-thalassemia-causing mutations, along with interacting mutations that affect the α-globin and γ-globin genes and their expression. We report a case of a 16-month-old boy who was initially diagnosed with iron deficiency anemia until he was later found to be homozygous for a severe β-thalassemia genotype with a mild hematologic phenotype. This was likely as a result of his ability to produce high levels of fetal hemoglobin.
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