FREQUENTLY ASKED QUESTIONS:

• Sickle Cell Trait/Carrier
• Thalassaemia Trait/Carrier
• Possible Alpha Thalassaemia/Iron Deficiency

 Sickle Cell Trait/Carrier and Thalassaemia Trait/Carrier:

The individual’s general health is unlikely to be affected, but it is important to know that their carrier status will remain the same for life.

Important to note: If the individual wants to start a family and their partner does not know whether or not they are a carrier of an unusual haemoglobin we recommend the partner gets a haemoglobinopathy screening test done. This is a free test which can be organised by the GP surgery.

If the partner is found to also carry the gene for an unusual haemoglobin then the GP can refer the individuals to a genetic counsellor, who can explain the risks to their children and what their options are.

For more information you can visit:

Sickle cell disease – Carriers – NHS

Your antenatal blood test result: you are a sickle cell carrier – GOV.UK

Thalassaemia – Thalassaemia carriers – NHS

Your antenatal blood test result: you are a beta thalassaemia carrier – GOV.UK 

 Possible Alpha Thalassaemia/Iron Deficiency and/or Haemoglobinopathy testing for the investigation of microcytic anaemia:

1. Individual with microcytic indices (with or without anaemia) 

Please ensure the following are completed: 

• Clinical history and examination 
• Family history of any relevant haemoglobinopathies 
• FBC and blood film 
• Ferritin and iron studies – if ferritin <30 OR TSAT <16%, please initiate iron replacement and investigate iron deficiency according to local guidelines and recheck once iron has been repleted 

2. Individual not iron deficient (or no longer deficient following replacement but remains microcytic) 

• Send haemoglobinopathy screen. Please ensure you include the relevant information including any recent history of blood transfusion and ethnicity, as this is crucial in interpreting the result 

3. Report suggests ‘possible alpha thalassaemia trait and/or iron deficiency’ 

As by this stage you have already ruled out iron deficiency, this is most likely alpha thalassaemia trait. Alpha thalassaemia trait does not have clinical implications for the patient but is important as it does have potential clinical implications for family planning. 

If no future plans for family planning or over the age of child-bearing potential, no further action is required. 

• Supply following leaflet – Possible Alpha Thalassaemia 
• If the individual has further questions about their carrier status after reading this leaflet, consider referral to genetic counselling – but this is not routinely required 
• No follow up with the haemoglobinopathy team is required 

If the individual is planning a family or may have plans in the future, recommend the following: 

• Supply following leaflet – Possible Alpha Thalassaemia 
• No follow up with the haemoglobinopathy team is required 
• Partner testing – FBC and haemoglobinopathy screen 
• Consider referral to genetic counselling clinic. Genetic counselling is required in some patients, particularly those at risk of a0-thalassaemia – this means that two alpha genes on the same locus are missing, and if the partner also has the same mutation then the fetus will not have the capacity to make any normal haemoglobin (known as Hb Bart’s hydrops fetalis). This condition is rarely compatible with life and therefore appropriate genetic counselling should be offered prior to conception where possible 

Individuals with probable alpha thalassaemia and the following parameters should be referred to clinical genetics if their partner also carries a haemoglobin variant or alpha/beta thalassaemia trait. This is most important in cases where the following applies, as these are high prevalence areas for a0-thalassaemia: 

• MCH <25 pg 

• HbA2 low or normal 

Family/ethnic origins from the following locations: 

• China
• Taiwan
• South East Asia (Thai, Laotian, Cambodian, Vietnamese, Myanmar, Malaysian, Singaporean, Indonesian, Filipino) 
• Cyprus 
• Greece
• Turkey
• Sardinia