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Hematological and genetic profiles of persons with co‐inherited heterozygous β‐thalassemia and supernumerary α‐globin genes

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Thalassemias are common monogenic autosomal recessive hemoglobin disorders. The usually asymptomatic heterozygotes (β‐thalassemia traits, βTT) may rarely develop non‐transfusion‐dependent‐thalassemia (NTDT) due to co‐inheritance of supernumerary α‐globin genes. Literature on phenotypic/genotypic… Click to show full abstract

Thalassemias are common monogenic autosomal recessive hemoglobin disorders. The usually asymptomatic heterozygotes (β‐thalassemia traits, βTT) may rarely develop non‐transfusion‐dependent‐thalassemia (NTDT) due to co‐inheritance of supernumerary α‐globin genes. Literature on phenotypic/genotypic features of these rare combinations is limited.

Keywords: globin genes; genetic profiles; supernumerary globin; hematological genetic; thalassemia

Journal Title: European Journal of Haematology
Year Published: 2023

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