3A50.03/D56.0 Homozygous or compound heterozygous alpha0 thalassaemia



Alpha-thalassemia is an inherited genetic disorder caused by mutations in the HBA1 and HBA2 genes. These mutations can be homozygous (both genes affected) or compound heterozygous (one gene affected from each parent).


Alpha-thalassemia is typically diagnosed through a blood test. This test looks for the presence of abnormal hemoglobin molecules, which can indicate the presence of a mutation in the HBA1 or HBA2 genes.

Differential diagnosis

Alpha-thalassemia can be differentiated from other inherited genetic disorders, such as sickle cell anemia and beta-thalassemia, through a variety of tests, such as a hemoglobin electrophoresis or a complete blood count.


Treatment of alpha-thalassemia depends on the severity of the condition and the presence or absence of any complications. Milder forms of the condition may not require treatment, while more severe forms may require red blood cell transfusions, medications to increase red blood cell production, and/or other treatments.


The prognosis for individuals with alpha-thalassemia depends on the severity and type of the condition. Some individuals may have a normal life expectancy, while others may experience severe complications, including anemia, organ damage, and even death. Early diagnosis and treatment can help improve prognosis and quality of life.

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