A Rare Hemoglobinopathy Duo: Hb ADANA x Hb SEA in a One-Year-Old Patient

Female thalassemia carriers are often symptom-free until their prenatal visit, discovering their fetus has hydrops fetalis. However, a single alpha-thalassemia gene mutation doesn’t cause this. It requires an additional mutation from both parents, impacting the fetus’s genotype and phenotype. Here, we present a case of a one-year-old girl with an uncommon alpha-thalassemia type. Genetic testing revealed the mother’s heterozygous south-east Asian (SEA) α-gene deletion and the husband’s heterozygosity for a rare non-deletional alpha-thalassemia mutation, hemoglobin (Hb) ADANA. (1-3)