Document Detail

β-globin gene cluster haplotypes in sickle cell patients from Panamá.
MedLine Citation:
PMID:  21387457     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients with sickle 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.
Iryna Rusanova; Gladys Cossio; Bélgica Moreno; F Javier Perea; Rosaura G De Borace; Mauricio Perea; Germaine Escames; Darío Acuña-Castroviejo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-03-08
Journal Detail:
Title:  American journal of human biology : the official journal of the Human Biology Council     Volume:  23     ISSN:  1520-6300     ISO Abbreviation:  Am. J. Hum. Biol.     Publication Date:    2011 May-Jun
Date Detail:
Created Date:  2011-04-12     Completed Date:  2011-08-08     Revised Date:  2012-10-09    
Medline Journal Info:
Nlm Unique ID:  8915029     Medline TA:  Am J Hum Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  377-80     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Departamento de Biomédica, Universidad Especializada de las Américas, Panamá, República de Panamá.
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MeSH Terms
Anemia, Sickle Cell / genetics*
Child, Preschool
Erythrocytes, Abnormal / pathology
Fetal Hemoglobin / genetics*
Hemoglobin, Sickle / genetics*
Multigene Family
Polymerase Chain Reaction
Polymorphism, Genetic*
beta-Globins / genetics*
Reg. No./Substance:
0/Hemoglobin, Sickle; 0/beta-Globins; 9034-63-3/Fetal Hemoglobin

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