COMPLEMENT REGULATORY PROTEIN LEVELS IN CHILDREN WITH SICKLE CELL TRAIT

Abstract

Sickle cell disease refers to a collection of autosomal recessive genetic disorders characterized by the presence of HbS variant of the globin chain while “sickle cell anaemia” refers to individuals with two copies of the variant (HbSS) and the primary haemoglobin present in their blood is the sickle haemoglobin. Individuals possessing one copy of the HbS variant plus one copy of another β-globin gene variant, such as HbC or Hb β thalassemias are referred to as compound heterozygotes (Ashley-Koch et al., 2000). Sickle cell trait (HbS) is the heterozygous form of sickle cell disease where the individual has normal haemoglobin HbA (normal) and HbS (sickle cell) gene. HbS carriers are protected from malaria infection and this is thought to have led to high frequency of HbS in individuals of African and Mediterranean ancestry (Ashley-Koch et al., 2000). Despite this protection in the carriers, individuals with sickle cell disease have significant morbidity and mortality. Symptoms include chronic anaemia, acute chest syndrome, stroke, splenic and renal dysfunction, pain crises and susceptibility to bacterial infections (Ashley-Koch et al., 2000; Platt et al., 1994)

Sickle cell disease refers to a collection of autosomal recessive genetic disorders characterized by the presence of HbS variant of the globin chain while “sickle cell anaemia” refers to individuals with two copies of the variant (HbSS) and the primary haemoglobin present in their blood is the sickle haemoglobin. Individuals possessing one copy of the HbS variant plus one copy of another β-globin gene variant, such as HbC or Hb β thalassemias are referred to as compound heterozygotes (Ashley-Koch et al., 2000). Sickle cell trait (HbS) is the heterozygous form of sickle cell disease where the individual has normal haemoglobin HbA (normal) and HbS (sickle cell) gene. HbS carriers are protected from malaria infection and this is thought to have led to high frequency of HbS in individuals of African and Mediterranean ancestry (Ashley-Koch et al., 2000). Despite this protection in the carriers, individuals with sickle cell disease have significant morbidity and mortality. Symptoms include chronic anaemia, acute chest syndrome, stroke, splenic and renal dysfunction, pain crises and susceptibility to bacterial infections (Ashley-Koch et al., 2000; Platt et al., 1994)