The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia
ABSTRACT Introduction: Haplotypes in the β S-globin cluster are named according to their geographical origin as Central African Republic (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arab-Indian. They are considered to have influence on the diversity of clinical manifestations in sickle cel...
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| Language: | English |
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Sociedade Brasileira de Patologia Clínica
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| Series: | Jornal Brasileiro de Patologia e Medicina Laboratorial |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000100024&lng=en&tlng=en |
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| author | Alexandra M. Watanabe Mara A. D. Pianovski Luana Lenzi Rubens Cat |
| author_facet | Alexandra M. Watanabe Mara A. D. Pianovski Luana Lenzi Rubens Cat |
| author_sort | Alexandra M. Watanabe |
| collection | DOAJ |
| description | ABSTRACT Introduction: Haplotypes in the β S-globin cluster are named according to their geographical origin as Central African Republic (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arab-Indian. They are considered to have influence on the diversity of clinical manifestations in sickle cell anemia (HbSS). Objective: To identify β S haplotypes and genotypes, their frequencies and their probable association with clinical presentation in patients with sickle cell anemia in the state of Paraná. Method: Longitudinal and descriptive study for the definition of haplotypes, and associative study for analysis of their influence on clinical severity. By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), polymorphic regions of 100 HbSS patients were identified. The association of haplotypes with clinical manifestations was analyzed in a subset of 52 pediatric patients. Results: In the state of Paraná, haplotype frequencies were: CAR: 76% BEN: 17.5% SEN: 0.5%, CAM: 0.5% and Atypical (Atp): 5.5%. Genotype frequencies were: CAR/CAR: 62%; CAR/BEN: 20%; CAR/Atp: 6%; CAR/ SEN: 1%; CAR/CAM: 1%; BEN/BEN: 6%; BEN/Atp: 3%, Atp/Atp: 1%. The average percentage of fetal hemoglobin (HbF) in CAR/CAR and CAR/BEN patients was higher than in other studies. Clinical manifestations were not influenced by β S haplotypes. Dactylitis and splenic sequestration occurred more frequently in children below 3 years of age. Conclusion: In this study, no association was found between haplotypes and clinical manifestations, probably given the almost absolute predominance of CAR and BEN haplotypes. However, this fact alerts to the possible influence of other polymorphisms and miscegenation in the Brazilian population. |
| first_indexed | 2024-12-10T16:51:49Z |
| format | Article |
| id | doaj.art-f721795bde8e401e94f881ae1ffd1448 |
| institution | Directory Open Access Journal |
| issn | 1676-2444 1678-4774 |
| language | English |
| last_indexed | 2024-12-10T16:51:49Z |
| publisher | Sociedade Brasileira de Patologia Clínica |
| record_format | Article |
| series | Jornal Brasileiro de Patologia e Medicina Laboratorial |
| spelling | doaj.art-f721795bde8e401e94f881ae1ffd14482022-12-22T01:40:52ZengSociedade Brasileira de Patologia ClínicaJornal Brasileiro de Patologia e Medicina Laboratorial1676-24441678-4774531243010.5935/1676-2444.20170007S1676-24442017000100024The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemiaAlexandra M. WatanabeMara A. D. PianovskiLuana LenziRubens CatABSTRACT Introduction: Haplotypes in the β S-globin cluster are named according to their geographical origin as Central African Republic (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arab-Indian. They are considered to have influence on the diversity of clinical manifestations in sickle cell anemia (HbSS). Objective: To identify β S haplotypes and genotypes, their frequencies and their probable association with clinical presentation in patients with sickle cell anemia in the state of Paraná. Method: Longitudinal and descriptive study for the definition of haplotypes, and associative study for analysis of their influence on clinical severity. By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), polymorphic regions of 100 HbSS patients were identified. The association of haplotypes with clinical manifestations was analyzed in a subset of 52 pediatric patients. Results: In the state of Paraná, haplotype frequencies were: CAR: 76% BEN: 17.5% SEN: 0.5%, CAM: 0.5% and Atypical (Atp): 5.5%. Genotype frequencies were: CAR/CAR: 62%; CAR/BEN: 20%; CAR/Atp: 6%; CAR/ SEN: 1%; CAR/CAM: 1%; BEN/BEN: 6%; BEN/Atp: 3%, Atp/Atp: 1%. The average percentage of fetal hemoglobin (HbF) in CAR/CAR and CAR/BEN patients was higher than in other studies. Clinical manifestations were not influenced by β S haplotypes. Dactylitis and splenic sequestration occurred more frequently in children below 3 years of age. Conclusion: In this study, no association was found between haplotypes and clinical manifestations, probably given the almost absolute predominance of CAR and BEN haplotypes. However, this fact alerts to the possible influence of other polymorphisms and miscegenation in the Brazilian population.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000100024&lng=en&tlng=ensickle cell anemiapediatricshaplotypes |
| spellingShingle | Alexandra M. Watanabe Mara A. D. Pianovski Luana Lenzi Rubens Cat The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia Jornal Brasileiro de Patologia e Medicina Laboratorial sickle cell anemia pediatrics haplotypes |
| title | The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia |
| title_full | The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia |
| title_fullStr | The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia |
| title_full_unstemmed | The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia |
| title_short | The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia |
| title_sort | frequency of βs globin haplotypes in the state of parana brazil and clinical manifestations of sickle cell anemia |
| topic | sickle cell anemia pediatrics haplotypes |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000100024&lng=en&tlng=en |
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