Sickle cell disease (SCD)is genetic disorders resulting from the presence of a mutated form of hemoglobin, hemoglobin S (HbS)^, within erythrocytes. HbS is formed by a genetic mutation in which one amino acid replaces another. HBS reacts to deoxygenation and dehydration by solidifying and stretching the erythrocytes into a sickle shape.

It is inherited from parents to children. Children with sickle cell disease inherit the sickle cell gene from one or both parents.  SCD denotes all genotypes containing at least one sickle gene, in which HbS makes up at least half the hemoglobin present.

There are various types of SCD, but Hgb SS or sickle cell anemia is the most common and severe type.
Sickle cell Thalassemia: HbS/b-0 thalassemia – Double heterozygote for HbS and b-0 thalassemia and HbS/b+ thalassemia – Mild-to-moderate severity.
There is HbSC disease – Double heterozygote for HbS and HbC

SCD is a lifelong disease, and the prognosis depends on each individual and the type of disease they have with the kind of care they receive.
Individuals with SCD suffer from pain crises. The number of crises an individual has is linked to the prognosis of the disease.

The most common cause of death in children with SCD is acute chest syndrome. In addition, pulmonary embolism, stroke, and infections are very commonly seen in individuals with SCD.

Sickle cell disease is usually chronic and challenging to manage. It requires affected individuals to face a lifetime of ongoing treatment. SCD causes lifelong episodes of acute and chronic pain, which are significant sources of debility for patients, and their families. SCD affects and impaired every aspect of the body, including the heart, the lungs, the bones, and the immune system.
Patients with this condition would continue to experience pain crises, accumulate organ damage.

There are several ongoing research studies on the cure and treatment of SCD, one being the Stem cell or bone marrow transplant. The treatment goal for SCD in young children is to improve survival by reducing the risk of infections and is achieved with pneumococcal vaccination and prophylactic antibiotics.

Genotype testing is done to determine if you or your loved one are carriers of the sickle cell gene.

Newborn screening is done for every infant that is born to identify any genetic disorder suck as SCD. Early identification is essential to the prognosis and treatment of SCD.