Differential Diagnosis for a 16-month-old Female with Hemoglobin Bart's on Newborn Screen
Single Most Likely Diagnosis
- Alpha-Thalassemia: The presence of Hemoglobin Bart's on the newborn screen is a strong indicator of alpha-thalassemia. This condition occurs when there is a mutation or deletion in one or more of the four genes that code for alpha-globin, leading to reduced or absent production of the alpha-globin chains of hemoglobin. The fact that the child is otherwise healthy suggests a less severe form, such as alpha-thalassemia trait (one or two gene deletions) rather than the more severe Hb Bart's hydrops fetalis syndrome (deletion of all four genes).
Other Likely Diagnoses
- Beta-Thalassemia Trait: Although less likely given the specific finding of Hemoglobin Bart's, beta-thalassemia trait could be considered if there were any concerns about the accuracy of the newborn screen or if the child had other signs suggestive of beta-thalassemia. However, Hemoglobin Bart's is more specifically associated with alpha-thalassemia.
- Hemoglobin H Disease: This condition is a form of alpha-thalassemia that results from the deletion of three of the four alpha-globin genes. It could be considered if the child had more significant symptoms or abnormalities on her CBC, but given her health and the initial newborn screen findings, it's less likely.
Do Not Miss Diagnoses
- Severe Alpha-Thalassemia (Hb Bart's Hydrops Fetalis): Although the child's health and age suggest this is unlikely, it's crucial to rule out more severe forms of alpha-thalassemia. Hb Bart's hydrops fetalis is typically fatal in utero or shortly after birth without intervention, but milder cases or those with incomplete genetic information might not be immediately apparent.
- Other Hemoglobinopathies: While less directly related to Hemoglobin Bart's, other hemoglobinopathies (like sickle cell disease) could potentially be considered, especially if there were any atypical findings on the CBC or if the family history suggested another condition.
Rare Diagnoses
- Gamma-Thalassemia or Delta-Thalassemia: These are rare conditions affecting the production of gamma or delta chains of hemoglobin, respectively. They are less likely to be associated with the specific finding of Hemoglobin Bart's and would typically present with different clinical and laboratory features.
- Acquired Hemolytic Anemias: Conditions that lead to the destruction of red blood cells, such as autoimmune hemolytic anemia, could potentially be considered if the CBC showed evidence of hemolysis. However, these would not directly explain the presence of Hemoglobin Bart's on the newborn screen.