Sickle cell disorder refers to the disorder of red blood cells. Hemoglobin is a protein responsible for carrying oxygen throughout the body. People with this disease have abnormal hemoglobin, known as hemoglobin S or sickle hemoglobin in the red blood cells.
These red blood cells become abnormal crescent shaped. It is considered to be an inherited disorder which is attributed to a mutation in a gene. It is caused by a single base substitution in the gene encoding the beta chain of hemoglobin.
It is a recessive disorder, and can only be expressed in people with two copies of the mutation. In simpler words, an individual that receives two copies of the mutated gene from both the parents tend to suffer from the disorder. Individuals having one copy of the mutated gene are carriers of the disease. These don’t develop the sickle cell disorder.
PROBLEMS WITH SICKLE CELL TRAIT
A healthy person has smooth, round and flexible hemoglobin cells. This allows red blood cells to easily glide through the blood stream. In the case of Sickle cell disorder, hemoglobin has an abnormal shape. Therefore, sickle cells found difficulty in gliding through the blood stream and hence forms rods that tend to clump together. Rigid and curved cells block the blood flow and can cause extreme pain and disease.
Patients with sickle cell are at a high risk of the crisis at higher altitudes. This is because they require more oxygen for normal functioning of their body than a normal person and their body is incapable of meeting the demand.
ADVANTAGES OF SICKLE CELL TRAIT
It was suspected that there is some relation between sickle cell and malaria. Malaria is a disease caused by protozoa Plasmodium and transmitted by female mosquito Anopheles. It was found sickle cell trait is protective against malaria.
Various genetic experiments by Ana Ferreira disclosed the mystery behind the protective mechanism of the sickle cell against malaria. It was found that this protection is attributed to heme oxygenase-1 (HO-1). This enzyme intensely increases the sickle hemoglobin. It produces the carbon monoxide gas which protects against cerebral malaria without interfering with the life cycle of the parasite. This provides survival advantage against malaria infection.