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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 . [ 1 ] [ 2 ]
Profile of a 10 year old child affected by β thalassemia, illustrating facial abnormalities. Symptoms depend on the type and severity of thalassemia. Carriers of thalassemia genes may have no symptoms (thalassemia minor), very mild symptoms with occasional crisis (thalassemia intermedia) or severe and life threatening symptoms (thalassemia major).
The highest prevalence is in the Eastern province, where approximately 17% of the population carry the gene and 1.2% have sickle cell disease. [164] In 2005, Saudi Arabia introduced a mandatory premarital test including HB electrophoresis, which aimed to decrease the incidence of SCD and thalassemia. [165]
The DSM-5 criteria puts more emphasis on social or occupational dysfunction than the ICD-10. [7] The ICD-10, on the other hand, puts more emphasis on first-rank symptoms. [2] [8] The current proposal for the ICD-11 criteria for schizophrenia recommends adding self-disorder as a symptom. [9]
Betibeglogene autotemcel, sold under the brand name Zynteglo, is a gene therapy for the treatment for beta thalassemia. [1] [5] [2] It was developed by Bluebird Bio and was given breakthrough therapy designation by the US Food and Drug Administration in February 2015.
Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of both the delta and beta globins. It is generally asymptomatic. [36] There are two clinically significant combinations involving the sickle cell gene: Hemoglobin S/ beta thalassemia: (see above). [35]
Splenic sequestration crisis is a life-threatening illness common in pediatric patients with homozygous sickle cell disease and beta thalassemia.Up to 30% of these children may develop splenic sequestration crisis with a mortality rate of up to 15%.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]