When should I refer a patient with thalassaemia for specialist management or genetic counselling?

Refer patients with thalassaemia for specialist management or genetic counselling in the following situations:

• Women with beta thalassaemia who are planning pregnancy or are pregnant should be referred early to a multidisciplinary team including a haematologist and specialist obstetrician for pre-conception counselling and close monitoring, due to increased risks such as iron overload, cardiomyopathy, endocrinopathies, and fetal growth restriction. Iron chelation therapy may be needed before pregnancy, so early referral is important NICE CKS.
• Women with haemoglobin H disease planning pregnancy should be referred because of risks of severe anaemia and haemolytic crises during pregnancy NICE CKS.
• Individuals with a personal or family history of inherited genetic disorders, including thalassaemia, or those with consanguinity or recurrent pregnancy losses, should be referred for specialist genetic risk assessment and counselling to evaluate reproductive risks and consider diagnostic testing NICE CKS.
• Partners of carriers of thalassaemia traits should be offered testing, and if both parents are carriers, referral for genetic counselling is advised to discuss the risk of the baby inheriting a haemoglobin disorder NICE CKS.

Carriers of thalassaemia trait without additional risk factors usually do not require specialist referral as they typically have normal health and pregnancy outcomes NICE CKS.