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β‐globin gene cluster haplotypes in sickle cell patients from Panamá
Author(s) -
Rusanova Iryna,
Cossio Gladys,
Moreno Bélgica,
Javier Perea F.,
De Borace Rosaura G.,
Perea Mauricio,
Escames Germaine,
AcuñaCastroviejo Darío
Publication year - 2011
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.21148
Subject(s) - haplotype , sickle cell anemia , genotype , hemoglobinopathy , hemoglobin , globin , genetics , gene , biology , microbiology and biotechnology , medicine , immunology , hemolytic anemia , cell
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 β S 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.