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Haematology


Full details for "Thalassaemia".  

Name

 Thalassaemia

Alternative name/Profile

 Haemoglobinopathy Screen, haemoglobin electrophoresis

Department

 Haematology

Investigation

Specimen type

 Peripheral blood

Sample type

Sample container & volume

 1 x 4ml purple EDTA sample (or equivalent EDTA sample containers from External Hospitals acceptable also) plus 1 x 5ml red serum sample

Frequency of analysis

Turnaround time

Availability

Notes

For further information please see Haemoglobinopathy (Hb-opathy) Screen

Purpose of Test
The haemoglobinopathies are genetic disorders of haemoglobin, the oxygen carrying component of blood. There are two classes of haemoglobinopathies: 
  • Haemoglobin variants - production of an abnormal globin or protein such as Haemoglobin S, Haemoglobin C, Haemoglobin E;
  • Thalassaemias - production of an altered proportion of a normal protein, which can lead to anaemia.
The clinical severity of the haemoglobinopathies varies depending of the mutation, from clinically silent to severe life limiting diseases, to a condition which is incompatible with foetal life. Approximately 7% of the global population are carriers of clinically significant haemoglobinopathies,  making them the most common inherited monogenic diseases. These disorders, including sickle cell disease and thalassemias, are most prevalent in the tropical regions of Asia, Africa, and the Mediterranean, though migration has spread them globally. 

Related links

Reference range

Last updated

Fri, 23 Jan 2026 16:25:59 GMT


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