Prognosis

Patient outlook is dependent on the type of alpha-thalassaemia present.

Alpha-thalassaemia silent carriers and patients with alpha-thalassaemia trait are usually asymptomatic and require only education and appropriate genetic counselling.

Patients with haemoglobin H (Hb H) disease have a phenotype of variable severity, although they generally lead normal lives. Patients must be educated about complications (exacerbations of haemolysis, cholelithiasis, ulcers, and growth retardation) and should be monitored as they grow older for the development of iron overload.

Pregnant patients with Hb H disease should be followed carefully for the development of severe anaemia and other complications.

Alpha-thalassaemia major

Without intervention, the fetus is subject to severe hypoxia, leading to hydrops fetalis and the associated morbidity and mortality.[11] Alpha-thalassaemia major can, however, be associated with survival into childhood if the mother elects to receive intrauterine transfusions (IUT).[37]

A review of data from the alpha-thalassaemia registry (International Registry of Patients With Alpha Thalassemia) indicates that fetuses with alpha-thalassaemia major who received at least two IUTs had delivery near term, resolution of hydrops, normal neurodevelopmental outcomes, and excellent survival.[96]​ Case reports and case series report similar outcomes.[97][98]

Patients who survive alpha-thalassaemia major in utero will require lifelong transfusion, with the attendant requirement for iron chelation, or will require haematopoietic stem cell transplantation.[37]

Use of this content is subject to our disclaimer