Sickle cell-beta thalassemia
From Wikipedia, the free encyclopedia
| Sickle cell beta thalassemia | |
|---|---|
| Other names | Sickle cell-β thalassemia |
| Specialty | Hematology |
Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease.[1][2]
Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease[citation needed]
Cause
Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other.[3]
Mutations
A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different mutations including both deletion and non-deletion forms.[citation needed]
Diagnosis
Patient may present with symptomatic anemia or with sickle crises. In the United States and other countries with new-born screening programs, the disease may be identified in neonates.[4]
Diagnostic tests include DNA sequencing, hemoglobin electrophoresis, and high-performance liquid chromatography.[5]
