HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
| Autor: | Genine Smarzo, Grace Onimoe |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Pathology
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Thalassemia Cell Case Report Disease medicine.disease_cause 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases Medicine Family history Mutation Sickle cell trait business.industry lcsh:RC633-647.5 Clinical course Chromosome General Medicine lcsh:Diseases of the blood and blood-forming organs medicine.disease medicine.anatomical_structure 030220 oncology & carcinogenesis Immunology business 030215 immunology |
| Zdroj: | Case Reports in Hematology, Vol 2017 (2017) Case Reports in Hematology |
| ISSN: | 2090-6579 2090-6560 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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