Original Research Article
β-globin gene cluster haplotypes in sickle cell patients from Panamá
Article first published online: 8 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Human Biology
Volume 23, Issue 3, pages 377–380, May/June 2011
How to Cite
Rusanova, I., Cossio, G., Moreno, B., Javier Perea, F., De Borace, R. G., Perea, M., Escames, G. and Acuña-Castroviejo, D. (2011), β-globin gene cluster haplotypes in sickle cell patients from Panamá. Am. J. Hum. Biol., 23: 377–380. doi: 10.1002/ajhb.21148
- Issue published online: 11 APR 2011
- Article first published online: 8 MAR 2011
- Manuscript Accepted: 15 DEC 2010
- Manuscript Revised: 13 DEC 2010
- Manuscript Received: 29 SEP 2010
- Secretaría Nacional de Ciencia, Tecnología e Innovación de Panamá (SENACYT). Grant Number: FID08-124
- Consejería de Innovación, Ciencia y Empresa, Junta de Andalucía, Spain. Grant Number: CTS-101.
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.