Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child

Genetics and Molecular Biology

Tania Regina Tozetto-mendoza¹  Paulo Roberto Santos Ferreira²  Nilcéia Maria Viviani¹  Dulcinéia Martins Albuquerque¹  Ivana Rizzi¹  João Targino De Araújo² 

[1] ,Universidade de São Paulo Instituto de Medicina Tropical de São Paulo Laboratório de Hematologia TropicalSão Paulo SP ,Brazil

关键词: hemoglobin Camperdown;    thalassemia;   

DOI  :  10.1590/S1415-47572005000300010

来源: SciELO

【 摘 要 】

We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown.

【 授权许可】

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