AI Article Synopsis
- β thalassemia occurs when there’s not enough functional β-globin chains in the blood, leading to an imbalance with too many α-globin chains.
- The condition shows a wide range of symptoms, from no symptoms at all to needing regular blood transfusions, depending on the specific genetic mutations involved.
- In a case of a 16-month-old boy, he was mistakenly diagnosed with iron deficiency anemia but was later found to have a severe β-thalassemia genetic makeup, though he had mild symptoms due to producing high levels of fetal hemoglobin.
Article Abstract
β 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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| http://dx.doi.org/10.1097/MPH.0000000000001068 | DOI Listing |
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