Thalassaemia is a group of inherited blood conditions that affect production of haemoglobin, the protein in red blood cells that carries oxygen. Alpha and beta thalassaemia involve different globin chains, and severity varies widely.

Carrier status and disease

A person with a thalassaemia trait may have mild anaemia or no symptoms. More severe forms can cause significant anaemia, poor growth, enlarged organs and bone changes. Thalassaemia is inherited and is not contagious.

Diagnosis

Testing can include a complete blood count, examination of haemoglobin types and genetic tests. Iron deficiency can resemble thalassaemia trait, so iron should not be taken solely because red cells are small without confirming deficiency.

The National Library of Medicine provides an overview of alpha and beta thalassaemia, diagnosis and treatment.

Treatment and family planning

Mild carrier states may need no treatment. Severe thalassaemia can require regular transfusions, monitoring and treatment for iron overload. Stem-cell transplantation may be an option for selected patients, and newer therapies are considered by specialist teams.

Carrier screening and genetic counselling can help people understand reproductive risks. The exact chance for a child depends on which variants each parent carries; it should not be assumed from a general percentage without confirmed results.