Sickle cell-beta thalassemia
{{Infobox medical condition (new)
| name = Sickle cell beta thalassemia
| synonyms = Sickle cell-β thalassemia
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| field = Hematology
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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.{{Cite web|title = Newborn Screening Program - Sickle Cell Beta Thalassemia Disease|url = http://www.idph.state.il.us/HealthWellness/fs/sickle_cell_beta_thalassemia.htm|website = www.idph.state.il.us|accessdate = 2015-06-18}}{{cite journal|pmid=10791557|year=2000|last1=Ashley-Koch|first1=A|title=Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review|journal=American Journal of Epidemiology|volume=151|issue=9|pages=839–45|last2=Yang|first2=Q|last3=Olney|first3=R. S.|doi=10.1093/oxfordjournals.aje.a010288|doi-access=free}}
Signs and symptoms
Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease{{cn|date=September 2021}}
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.{{Cite web|title = Hemoglobin S– β -Thalassemia Disease - Hematology and Oncology|url = https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/hemoglobin-s-span-class-symbol-span-thalassemia-disease|accessdate = 2015-06-18}}
= 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.{{cn|date=September 2021}}
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.{{Cite web|title = Newborn Screening Program - Sickle Cell Beta Thalassemia Disease|url = http://www.idph.state.il.us/HealthWellness/fs/sickle_cell_beta_thalassemia.htm|website = www.idph.state.il.us|accessdate = 2015-06-18}}
Diagnostic tests include DNA sequencing, hemoglobin electrophoresis, and high-performance liquid chromatography.{{cite journal|pmid=10791557|year=2000|last1=Ashley-Koch|first1=A|title=Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review|journal=American Journal of Epidemiology|volume=151|issue=9|pages=839–45|last2=Yang|first2=Q|last3=Olney|first3=R. S.|doi=10.1093/oxfordjournals.aje.a010288|doi-access=free}}
Treatment
Treatment is the same as for patients with sickle cell disease. Patients may receive hydroxyurea to induce the protective effects of increased fetal hemoglobin production. They may also benefit from blood transfusions especially during vaso-occlusive crises. Patients may be offered chemoprophylaxis with penicillin. They may have splenic dysfunction and splenectomy is frequently performed. Vaccination against encapsulated bacteria including Streptococcus pneumoniae is recommended.{{cn|date=September 2021}}
References
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External links
{{Medical resources
| DiseasesDB = 29784
| ICD10 = D57.40, D57.40, D57.412, D57.419
| ICD9 = 282.41, 282.42
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