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- W4386478246 abstract "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)" @default.
- W4386478246 created "2023-09-07" @default.
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- W4386478246 date "2023-09-06" @default.
- W4386478246 modified "2023-09-27" @default.
- W4386478246 title "A Rare Hemoglobinopathy Duo: Hb ADANA x Hb SEA in a One-Year-Old Patient" @default.
- W4386478246 doi "https://doi.org/10.22541/au.169398727.72967647/v1" @default.
- W4386478246 hasPublicationYear "2023" @default.
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