Trusted Resources: Evidence & Education
Scientific literature and patient education texts
Sickle Cell Anaemia
source: Gpnotebook
year: N/A
summary/abstract:Sickle cell disease (SCD) is a group of inherited, multisystemic conditions with episodes of acute illness and progressive organ damage. It is characterized by the occurrence of the sickle mutation (1,2).
-mutation in the beta globin gene results in substitution of valine for glutamine at the sixth position in the beta-subunit of a Hb molecule and leads to the production of abnormal beta-globin chain. This alpha2-S2 tetramer is called sickle haemoglobin molecule (HbS) (1)
-the disease shows an autosomal recessive inheritance (3), all SCD genotypes contain at least one sickle gene in which HbS comprises at least half of the haemoglobin present (4)
-in sickle cell anaemia (homozygous SCD) – 80-99% of the haemoglobin is HbS, with most of the remainder being fetal haemoglobin (HbF)
The term sickle cell disease (SCD) represents all of the different genotypes which presents with the characteristic clinical syndrome as a result of the presence of haemoglobin S while the term sickle cell anaemia (commonest type of SCD) is used specifically for patients with the homozygos disease (2).
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