HbSS is one of the types of Sickle Cell Anaemia. This version of Sickle Cell Disease happens when the patient has inherited a gene from each parent, which has led to rigid, sickle-shaped red blood cells in the body. This is the most common form of the disease and is also typically the most severe version of this illness as well.
The symptoms of HbSS are:
The symptoms of HbSS often appear around 6 months of age in most patients. The signs and symptoms can change over time as the condition progresses. In many patients, episodes of extreme pain can be followed by periods without any pain at all. This is because the sickle-shaped blood cells in the body can block blood flow through the tiny blood vessels of the chest, the abdomen, and the joints or organs, causing the pain that is linked with the disease.
Some patients will also have bone or joint damage, ulcers, and other kinds of GI tract pain. Anaemia is also very common in patients with this condition because sickle cells break apart easily and die. In healthy people, red blood cells can live for about 120 days before being replaced. In those with HbSS, the same cells will only like about 10 to 20 days before dying.
Sickle cell anaemia is caused by changes in the gene that tells the body to make red blood cells. Since the red blood cells in the body are necessary to carry oxygen from the lungs throughout the body, this can lead to major health concerns and all of the related symptoms listed above. For children to get HbSS, they need to get the sickle cell trait from both parents. Those who do not get traits from both parents usually are carriers of the trait but do not experience symptoms.
The risk factor for this condition is having two parents who carry the sickle cell trait. This trait is most common in those of African, Mediterranean, and Middle Eastern descent.
A blood test can verify if a person has sickle cell anaemia. This is a common test that is done for newborns after birth, but it can be done for adults as well. Genetic testing can also be done to confirm that the patient carries the traits necessary to have sickle cell anaemia.
Children who are diagnosed with this condition will often be tested via ultrasound for their risk of stroke. This can be done in children that are as young as 2 years of age. This will help to identify high-risk patients who will need long-term blood transfusions to prevent the risk of suffering from a stroke.
The best preventative method for not having children with sickle cell anaemia is to submit to genetic testing before getting pregnant. This will tell parents if they have any risk of communicating this health condition to their children.
For most patients, this condition can be managed through an array of treatment modalities. Many patients will be treated with the intention of avoiding complications and relieving symptoms. Blood transfusions and medications that help prevent pain and secondary health risks like stroke are usually part of the treatment plan. In some children or teenagers, stem cell transplants have been shown to cure the disease.
Most patients will be treated with Hydroxyurea which reduces the risk of pain episodes and helps reduce the need for blood transfusions. L-glutamine oral powder has also been shown to have the same effect. Pain relievers might also be given to those who are experiencing a flare. Voxelotor is another drug that can be given to patients with HbSS to improve blood flow throughout the body and reduce anaemia.
Patients with HbSS are prone to infections, so care needs to be taken to maintain skin health and to attend to colds and cases of flu promptly. Patients with HbSS should also consider being vaccinated for things like pneumonia, meningitis, hepatitis B, and the flu.