Disease name: Beta Thalassemia

ICD-10 Disease Code: D56.1 Beta thalassemia

ICD-10 Disease Group: D56- Thalassemia

General description:

Beta thalassemia belongs to a group of diseases known as the thalassemias, which are characterised by haemoglobin deficiency. The thalassemias are part of a larger family of autosomal-recessive disorders known as the haemoglobinopathies that implicate haemoglobin. Based on severity, the disease is classified into thalassemia intermedia and thalassemia major (TM, also known as Cooley’s anaemia) which are further classified into transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) respectively, with TDT being the most severe form of the disease. 


Beta thalassemia may arise from >200 known mutations in the haemoglobin subunit beta (HBB) gene. Mutations in HBB result in a shortage of mature and functional adult haemoglobin, leading to a spectrum of symptoms ranging from none at all to severe anaemia, depending on the exact HBB mutation(s) present.

Disease frequency:

The incidence of symptomatic beta thalassemia is estimated at 1/100,000 worldwide. However, the disease is particularly prevalent in the Mediterranean, Middle East, Africa and Central Asia (raredisease.org). 


In affected patients, the low levels of functioning haemaglobin lead to lack of oxygen in various body parts. The exact symptoms depend on the type and severity of disease, but may include fatigue, weakness, shortness of breath, pale or yellowish skin, dark urine, abdominal swelling, facial bone deformities and slow growth. 


At present, the only cure for thalassemia is a high-risk bone-marrow transplant, but for most affected individuals the chances of finding a suitable donor are extremely low. Treatment is life-long and includes symptom management, pain relief and blood transfusions.



Patient Organisations:


HashtagBeta Thalassemia

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