《2011RCOG孕期镰状细胞病的处理》内容预览

SCD is a group of inherited single-gene autosomal recessive disorders caused by the ‘sickle’ gene, which affects haemoglobin structure.
SCD has its origins in sub-Saharan Africa and the Middle East, hence it is most prevalent in individuals of African descent as well as in the Caribbean, Middle East, parts of India and the Mediterranean, and South and Central America. Owing to population migration, SCD is now of increasing importance worldwide and there are increasing numbers of affected individuals in Europe and the USA.

The term SCD includes sickle cell anaemia (HbSS) and the heterozygous conditions of haemoglobin S and other clinically abnormal haemoglobins.These include combination with haemoglobin C (giving HbSC), combination with beta thalassaemia (giving HbSB thalassaemia) and combination with haemoglobin D, E or O-Arab. All of these genotypes will give a similar clinical phenotype of varying severity. Haemoglobin S combined with normal haemoglobin (A), known as sickle trait (AS), is asymptomatic, except for a possible increased risk of urinary tract infections and microscopic haematuria, and is not considered further in this guideline.

SCD is the most common inherited condition worldwide. About 300 000 children with SCD are born each year;two-thirds of these births are in Africa. In the UK, it is estimated that there are 12 000–15 000 affected individuals and over 300 infants born with SCD in the UK each year who are diagnosed as part of the neonatal screening programme. There are approximately 100–200 pregnancies in women with SCD per year in the UK; pregnancy outcome in this group is currently being assessed by the UK Obstetric Surveillance System [https://www.npeu.ox.ac.uk/ukoss/completed-surveillance].

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