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β-globin gene cluster haplotypes in sickle cell patients from Panamá

Authors

  • Iryna Rusanova,

    1. Departamento de Biomédica, Universidad Especializada de las Américas, Panamá, República de Panamá
    2. Instituto de Biotecnología, Centro de Investigación Biomédica, Parque Tecnológico de Ciencias de la Salud, Armilla, Granada, Spain
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  • Gladys Cossio,

    1. Hospital del Niño, Panamá, República de Panamá
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  • Bélgica Moreno,

    1. Hospital del Niño, Panamá, República de Panamá
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  • F. Javier Perea,

    1. División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Guadalajara, México
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  • Rosaura G. De Borace,

    1. Laboratorio de Referencia en Salud Pública, Instituto Conmemorativo Gorgas, Panamá, República de Panamá
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  • Mauricio Perea,

    1. Hospital del Niño, Panamá, República de Panamá
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  • Germaine Escames,

    1. Instituto de Biotecnología, Centro de Investigación Biomédica, Parque Tecnológico de Ciencias de la Salud, Armilla, Granada, Spain
    2. Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada, Spain
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  • Darío Acuña-Castroviejo

    Corresponding author
    1. Instituto de Biotecnología, Centro de Investigación Biomédica, Parque Tecnológico de Ciencias de la Salud, Armilla, Granada, Spain
    2. Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada, Spain
    • Instituto de Biotecnología, Centro de Investigación Biomédica, Parque Tecnológico de Ciencias de la Salud, 18100, Armilla, Granada, Spain
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Abstract

Objective: To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended in the Children's Hospital of Panama.

Methods: Five polymorphic sites in the β-globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).

Results: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis.

Conclusion: The results show the presence of common βS haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes. Am. J. Hum. Biol. 2011. © 2011 Wiley-Liss, Inc.

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