What are the haemoglobin disorders?
- Commonest recessively inherited disorders of childhood in the UK
- Potentially life-threatening conditions causing anaemia and other problems
- Due to inheritance of variants in the genes for haemoglobin that alter the structure (e.g. haemoglobin S) or amount (e.g. beta thalassaemia) of haemoglobin
- Not all combinations of haemoglobin gene variants cause a clinical disorder
- Increased population mixing have led to these conditions being found in most populations
What are they?
- Blood disorders which affect the structure of haemoglobin
Frequency (England)
- Affect 350 pregnancies annually
- Estimated 12,500 people living with sickle cell diseases
- Estimated 310,000 carriers (AS and AC)
Who do they affect?
- Can affect anyone from any population
- More common in people of African, Caribbean, Middle Eastern, Mediterranean and South Asian (Indian subcontinent) ancestry
- Carriers are usually healthy
How are individuals affected?
- Red blood cells "sickle" when they are short of oxygen, causing anaemia, risk of life-threatening infections, unpredictable attacks of severe pain ('crises'), morbidity (e.g. stroke), mortality
How are they managed?
- Information for family on risk factors - dehydration, heat, cold, infection, stress
- Prophylactic antibiotics from early age
- Regular clinic attendance
- Rapid access to medical help in emergency
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What are they?
- Blood disorders which cause early profound anaemia
- Two types: beta (ß) thalassaemia major is commoner than alpha (a) thalassaemia major
Frequency (England)
- Affect about 75 pregnancies per year
- About 25 babies with beta thalassaemia major born annually
- About 5 pregnancies affected with alpha thalassaemia major annually
- Approximately 860 people living with major thalassaemia
- Estimated 327,000 carriers
Who does thalassaemia affect?
- Can affect anyone
- Most common in people of Mediterranean , Middle Eastern, Asian (Indian subcontinent) or South East Asian ancestry
- Carriers are usually healthy
How are individuals affected?
- Red blood cells contain little haemoglobin, causing profound anaemia
- Beta thalassaemia major: severe anaemia requiring regular blood transfusions from about 9 months of age
- Alpha thalassaemia major: severe anaemia in the fetus during pregnancy leads to perinatal death (hydrops fetalis). Alpha thalassaemia intermedia: (haemoglobin H disease) causes moderate anaemia with little pathology in most cases
How is ß thalassaemia major managed?
- Monthly blood transfusions, and iron chelation therapy to remove excess iron (introduced in transfused blood)
- Bone marrow transplant is feasible in 25-30% of cases
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