Sickle cell disease (HbS) is a severe hereditary form of anemia in which a mutated form of

hemoglobin distorts the red blood cells (RBC’s) into a crescent shape at low oxygen levels.

Sickle cell disease (HbS) is commonest among those of African descent.

In this disease, a single base mutation in the β-globin gene leads to the substitution of valine for
glutamine at the 6th amino acid position of the β-globin chain. High levels of deoxygenated sickle Hb
form reversible fibrils leading to sickling of the red cells.

The abnormal Hb SS is prone to form tactoids with crystallization in the RBC’s when oxygen tension
is low, and the RBC’s change shape to long, thin sickle cells that are “sticky” and sludge in
capillaries, further decreasing blood flow and oxygen tension. The sickled RBCs tend to adhere to
endothelium, and the bioavailability of endothelial nitric oxide is reduced as well, further promoting
vaso-occlusion.

Clinical features:

The heterozygous state (Sickle Cell Trait – HbAS) is usually asymptomatic, although problems may
arise with anesthesia (hypoxia). People who inherit one sickle cell gene and one normal gene have
sickle cell trait (SCT).

People with SCT usually do not have any of the symptoms of sickle cell disease (SCD), but they can
pass the trait on to their children. People with sickle cell trait are well, and will usually only know
about their trait if they are tested for it. Pregnant women and couples planning children may want to
know whether they have sickle cell trait, because if both parents have it, their child might inherit
SCD. In England, tests for sickle cell trait and SCD are offered to pregnant women and newborn
babies.

There is no anemia and in general, people with sickle cell trait enjoy normal life spans with no
medical problems related to sickle cell trait. Rarely, extreme conditions such as severe dehydration
and high-intensity physical activity can lead to serious health issues, including sudden death, for
individuals with sickle cell trait.
Filled Under