Other specified thalassaemias are a group of inherited conditions caused by mutations in the HBB gene which is responsible for the production of beta-globin. Mutations in this gene can lead to a deficiency in the production of beta-globin resulting in a wide range of clinical presentations.
Diagnosis of other specified thalassaemias is based on a combination of clinical, haematological and genetic data. Clinical features can include pallor, jaundice, delayed growth, hepatosplenomegaly and skeletal features such as frontal bossing. Haematological features may include an elevated mean corpuscular volume (MCV), an elevated reticulocyte count and a decreased haemoglobin concentration. Diagnosis can be confirmed by genetic testing of the HBB gene.
Other specified thalassaemias should be differentiated from other haematological disorders such as iron deficiency anaemia, aplastic anaemia and haemolytic anaemia.
Treatment of other specified thalassaemias is aimed at managing symptoms and preventing complications. This may include regular transfusions, iron chelation therapy and, in some cases, bone marrow transplantation.
The prognosis of other specified thalassaemias is variable and depends on the severity of the condition. In mild cases, life-expectancy is not significantly reduced, however, in severe cases, life-expectancy may be reduced. Complications of the condition such as iron overload can also affect the prognosis.