This genetic disease, which has an impact on millions of people all over the world, is most common among the representatives of African, Mediterranean, and South Asian origin. It is one of the most prevalent types of sickle cell disease, which is a more extensive category of hereditary diseases of red blood cells. This disease affects the shape of the red blood cells. It leads to pain, anemia, and damage to the organs. It is therefore important to have knowledge on this disease, its causes, signs and remedies in order to be able to combat the disease and enhance the standard of living of the affected individuals.
What is Sickle Cell Anemia?
In sickle cell disease, the red blood cells change from their normal round and flexible shape to a rigid crescent or “sickle” shape. These cells are unable to deliver enough oxygen to the body and can obstruct blood flow, causing pain and other complications. The mutation in this disorder is a result of a change in the HBB gene which codes for part of hemoglobin, a protein found in red blood cells that transports oxygen.
Sickle Cell Anemia Genetics
This autosomal recessive disease implies that a child must inherit two non-normal HBB genes, one from each parent. Individuals with only one abnormal gene are referred to as ‘carriers’ or have ‘sickle cell trait. Such persons do not show signs of the disease but can pass the gene to their children. The genetics in this disease are a good example of the need for genetic counseling to help people in the high-risk populations understand the consequences of the gene.
Sickle Cell Anemia vs Sickle Cell Disease
While the two terms are sometimes used as synonyms, there is a difference between both. Sickle cell disease encompasses a number of diseases, and the most severe of these is sickle cell anemia or HbSS. Other forms of SCD are HbSC, HbS beta-thalassemia, and HbS-Hemoglobin D. All of these conditions involve the presence of abnormal hemoglobin, but the severity and genetic mutation are different.
HbSS Symptoms
Symptoms can vary in severity and frequency, but they generally include:
- Pain episodes (known as sickle cell crises), often in the bones, chest, or joints
- Chronic fatigue due to anemia
- Shortness of breath or difficulty breathing
- Swelling in the hands and feet
- Frequent infections due to a weakened immune system
- Delayed growth and development in children
It is characterized by symptoms that may be mild or severe and even fatal. These symptoms are usually manifested at a very young age and are likely to progress with time.
Sickle Cell Disease Symptoms
Sickle cell disease is a broader category that has different symptoms depending on the type of disease. Its symptoms may be similar to sickle cell anemia but can also have other complications, including stroke, vision problems, or acute chest syndrome, which is a severe lung condition that occurs when blood vessels in the lungs are blocked.
Sickle Cell Anemia Causes
This genetic disorder results from a mutation in the HBB gene that codes for part of hemoglobin. This mutation results in the formation of a variant hemoglobin, the hemoglobin S, which distorts the red blood cells into the sickle shape when under stress. These malformed cells are more prone to breaking down and cause chronic anemia and can also clump together and block blood flow and oxygen supply to various parts of the body. It is a genetic disorder but certain conditions like dehydration or high altitude can worsen the condition.
Sickle Cell Anemia Treatment
Though there is no cure for this disease till date, there are several treatments that can help in controlling the symptoms and preventing complications. The treatment typically focuses on:
Pain management
Sickle cell patients require pain management to be able to lead normal lives. Acetaminophen or stronger opioids may be administered during pain episodes depending on the severity of the pain.
Hydroxyurea
This medication is used to decrease the frequency of pain episodes and other complications by raising fetal hemoglobin levels that prevents red blood cells from becoming sickle shaped.
Blood transfusions
The number of normal red blood cells can be increased with the help of regular blood transfusions, which will enhance the oxygen delivery to the tissues and decrease the symptoms of anemia.
Bone marrow transplants
In some cases, bone marrow or stem cell transplants may help cure this health disorder in a few patients. However, this treatment is dangerous and not commonly used. New therapies like gene editing and experimental drugs are still in the pipeline and this gives hope for better treatments in the future.
Sickle Cell Anemia: Prevention
As it is a genetic disorder, prevention is mainly aimed at avoiding the transmission of the disease to the next generations. Prevention of sickle cell anemia involves:
Genetic counseling
People with this disease should consult their doctors before planning to have children so that they can be advised on the risks they are likely to face.
Prenatal testing
Women who are pregnant can choose to go for a prenatal test that will help in identifying if the baby has the sickle cell gene. This means that parents can be prepared on how to handle the disease in advance if it is detected early.
While it is impossible to prevent the occurrence of the genetic mutation, more education and availability of genetic counseling can help families avoid passing the gene on to their children.
Conclusion
Wrapping it up, sickle cell anemia is an acute form of sickle cell disease which needs to be treated well before it gets worse. Though it is a severe and chronic genetic disease, with the help of medical intervention, people can lead normal lives. In the course of the research, the future seems bright as there are prospects of cure for the diseases. If a person (woman) carries sickle cell trait and wants to get pregnant, she should consult a genetic counselor before she conceives.