Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde
Sickle cell anemia (SCA) results from a mutation in the β-globin gene, leading to the production of mutant hemoglobin, known as hemoglobin S (HbS). Despite being a genetic disorder, the phenotype of SCA can be influenced by the level of fetal hemoglobin (HbF), which is associated with beta S-globin...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | Anemia |
| Online Access: | http://dx.doi.org/10.1155/2024/1687917 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849399031381360640 |
|---|---|
| author | Ariana Freire Laura Charola-Ramos Elisa González-Guerra João Gonçalves Vanusa Rocha Vera Afreixo Enrique Martínez-Carretero José M. Raya |
| author_facet | Ariana Freire Laura Charola-Ramos Elisa González-Guerra João Gonçalves Vanusa Rocha Vera Afreixo Enrique Martínez-Carretero José M. Raya |
| author_sort | Ariana Freire |
| collection | DOAJ |
| description | Sickle cell anemia (SCA) results from a mutation in the β-globin gene, leading to the production of mutant hemoglobin, known as hemoglobin S (HbS). Despite being a genetic disorder, the phenotype of SCA can be influenced by the level of fetal hemoglobin (HbF), which is associated with beta S-globin haplotypes. In this study, we conducted newborn screening (NBS) using samples collected from umbilical cord blood in two hospitals on Santiago Island, Cape Verde. In newborns, HbS was detected using high-performance liquid chromatography (HPLC) on dried blood spot, with confirmation through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). In addition, we assessed the hematological and clinical characteristics of a second population group consisting of patients diagnosed with SCA. Haplotype determination was performed on both newborns with HbS and patients with SCA. Beta S-globin haplotypes were determined using PCR-RFLP. Hematological values were analyzed using standard methods. Out of 346 newborns, 21 (6%) were carriers of the sickle cell trait (HbAS) while none were identified as homozygous for sickle cell disease (HbSS). Among both groups of individuals, four haplotypes were identified: Senegal, Arabi-Indian, Bantu, and Benin. The Senegal haplotype was the most prevalent, possibly reflecting the ethnic origin of the mutations observed. Hematological values did not differ significantly among haplotypes. However, higher levels of HbF were associated with better hematological values. These findings suggest a positive impact of elevated HbF levels on reducing the severity of SCA. Finally, we demonstrated how the combination of technics, HPLC and molecular analysis, provided a consistent and reproducible results that can be used for NBS for SCA. |
| format | Article |
| id | doaj-art-9db6693d44e444e086d2fdf34633ffd8 |
| institution | Kabale University |
| issn | 2090-1275 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Anemia |
| spelling | doaj-art-9db6693d44e444e086d2fdf34633ffd82025-08-20T03:38:26ZengWileyAnemia2090-12752024-01-01202410.1155/2024/1687917Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape VerdeAriana Freire0Laura Charola-Ramos1Elisa González-Guerra2João Gonçalves3Vanusa Rocha4Vera Afreixo5Enrique Martínez-Carretero6José M. Raya7University of Cape Verde (UniCV)University of La Laguna (ULL)University of La Laguna (ULL)University Hospital Dr. Agostinho Neto (UHAN)University of Cape Verde (UniCV)University of Aveiro (UA)University of La Laguna (ULL)University of La LagunaSickle cell anemia (SCA) results from a mutation in the β-globin gene, leading to the production of mutant hemoglobin, known as hemoglobin S (HbS). Despite being a genetic disorder, the phenotype of SCA can be influenced by the level of fetal hemoglobin (HbF), which is associated with beta S-globin haplotypes. In this study, we conducted newborn screening (NBS) using samples collected from umbilical cord blood in two hospitals on Santiago Island, Cape Verde. In newborns, HbS was detected using high-performance liquid chromatography (HPLC) on dried blood spot, with confirmation through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). In addition, we assessed the hematological and clinical characteristics of a second population group consisting of patients diagnosed with SCA. Haplotype determination was performed on both newborns with HbS and patients with SCA. Beta S-globin haplotypes were determined using PCR-RFLP. Hematological values were analyzed using standard methods. Out of 346 newborns, 21 (6%) were carriers of the sickle cell trait (HbAS) while none were identified as homozygous for sickle cell disease (HbSS). Among both groups of individuals, four haplotypes were identified: Senegal, Arabi-Indian, Bantu, and Benin. The Senegal haplotype was the most prevalent, possibly reflecting the ethnic origin of the mutations observed. Hematological values did not differ significantly among haplotypes. However, higher levels of HbF were associated with better hematological values. These findings suggest a positive impact of elevated HbF levels on reducing the severity of SCA. Finally, we demonstrated how the combination of technics, HPLC and molecular analysis, provided a consistent and reproducible results that can be used for NBS for SCA.http://dx.doi.org/10.1155/2024/1687917 |
| spellingShingle | Ariana Freire Laura Charola-Ramos Elisa González-Guerra João Gonçalves Vanusa Rocha Vera Afreixo Enrique Martínez-Carretero José M. Raya Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde Anemia |
| title | Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde |
| title_full | Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde |
| title_fullStr | Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde |
| title_full_unstemmed | Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde |
| title_short | Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde |
| title_sort | sickle cell anemia screening in newborns and analysis of haplotypes in patients from santiago island cape verde |
| url | http://dx.doi.org/10.1155/2024/1687917 |
| work_keys_str_mv | AT arianafreire sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT lauracharolaramos sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT elisagonzalezguerra sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT joaogoncalves sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT vanusarocha sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT veraafreixo sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT enriquemartinezcarretero sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde AT josemraya sicklecellanemiascreeninginnewbornsandanalysisofhaplotypesinpatientsfromsantiagoislandcapeverde |