Expression Differences of Abnormal Hemoglobin New York in Infants, Children and Adults, and Analysis of Clinical Phenotypes and Genotypes in Combination with Thalassemia.

Abstract excerpt

The study investigated expression differences of Hb New York (HBB:c.341T > A) across infants, children, and adults, and analyzed the clinical phenotypes and genotypes when co‑inherited with thalassemia. We retrospectively reviewed 317 cases of Hb New York carriers, assessing hematological parameters, hemoglobin electrophoresis, and genetic testing results. All samples carried the HBB:c.341T > A mutation,...

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