| Autor: |
Diego A. Pereira-Martins, Igor F. Domingos, Edis Belini-Junior, Juan L. Coelho-Silva, Isabel Weinhäuser, Aderson S. Araújo, Clarisse L. Lobo, Claudia R. Bonini-Domingos, Marcos A. Bezerra, Antonio R. Lucena-Araujo |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Hematology, Transfusion and Cell Therapy, Vol 43, Iss 3, Pp 243-248 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2531-1379 |
| DOI: |
10.1016/j.htct.2020.03.006 |
| Popis: |
Introduction: Sickle cell anemia (SCA) is a Mendelian disorder with a heterogeneous clinical course. The reasons for this phenotypic diversity are not entirely established, but it is known that high fetal hemoglobin levels lead to a milder course of the disease. Additionally, genetic variants in the intergenic region HBS1L-MYB promote high levels of fetal hemoglobin into adulthood. Objective: In the present study, we investigated the HMIP1 C-839A (rs9376092) polymorphism, located at the HBS1L-MYB intergenic region block 1, in SCA patients. Method: We analyzed 299 SCA patients followed in two reference centers in Brazil. The HMIP1 C-839A (rs9376092) genotypes were determined by allele specific polymerase chain reactions. Clinical and laboratory data were obtained from patient interviews and medical records. Results: The median fetal hemoglobin levels were higher in patients with the HMIP1 C-839A (rs9376092) AA genotype (CC = 6.4%, CA = 5.6% and AA = 8.6%), but this difference did not reach significance (p = 0.194). No association between HMIP1 C-839A (rs9376092) genotypes and other clinical and laboratorial features was detected (p > 0.05). Conclusion: In summary, our data could not support the previously related association between the HMIP1 C-893A (rs9376092) polymorphism and differential fetal hemoglobin levels. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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