HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with s...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2017/9265396 |
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| author | Grace Onimoe Genine Smarzo |
| author_facet | Grace Onimoe Genine Smarzo |
| author_sort | Grace Onimoe |
| collection | DOAJ |
| description | Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as “FS” and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care. |
| format | Article |
| id | doaj-art-7414b0d3e6c94d869e0204247d039297 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-7414b0d3e6c94d869e0204247d0392972025-02-03T01:33:10ZengWileyCase Reports in Hematology2090-65602090-65792017-01-01201710.1155/2017/92653969265396HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle CellGrace Onimoe0Genine Smarzo1Cleveland Clinic Lerner College of Medicine (CCLCM), Case Western University, 9500 Euclid Avenue, Cleveland, OH 44195, USACleveland Clinic Lerner College of Medicine (CCLCM), Case Western University, 9500 Euclid Avenue, Cleveland, OH 44195, USASickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as “FS” and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.http://dx.doi.org/10.1155/2017/9265396 |
| spellingShingle | Grace Onimoe Genine Smarzo HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell Case Reports in Hematology |
| title | HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell |
| title_full | HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell |
| title_fullStr | HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell |
| title_full_unstemmed | HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell |
| title_short | HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell |
| title_sort | hbs sicilian δβ 0 thalassemia a rare variant of sickle cell |
| url | http://dx.doi.org/10.1155/2017/9265396 |
| work_keys_str_mv | AT graceonimoe hbssiciliandb0thalassemiaararevariantofsicklecell AT geninesmarzo hbssiciliandb0thalassemiaararevariantofsicklecell |