Sickle cell disease (SCD) is a blood disorder that makes sickle-shaped red blood cells. “Sickle-shaped” means C-shape. Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S (Hb S). Sickle-shaped blood cells (abnormal cells) cannot move easily from the blood vessels and this ultimately results in blocking the blood flow. The abnormal cells are stiff and sticky.
The Normal Blood Cells structure is like a disc shape. Red Blood Cells (RBCs) contain an iron-rich protein called hemoglobin. This protein carries oxygen from the lungs to the rest of the body. The normal blood cells can easily move from the blood vessel.
Types of Sickle Cell Diseases
Hemoglobin is the protein made up of two alpha chains (alpha gene) and two beta chains (beta gene). The sickle cell anemia (sickle cell disease) is caused by different gene mutations. Read about the types of Sickle Cell Diseases / Sickle Cell Anemia from below-
Hemoglobin SS disease – This disease occurs when you acquire the same copies of Hemoglobin S gene from both parents. This form of hemoglobin is known as Hb SS.
Hemoglobin SC disease – It occurs when you inherit the Hb C gene from the parent and Hb S gene from other parents. As a comparison to Hb SS disease, this disease is less severe.
Hemoglobin SB+ (Beta) Thalassemia – This disease affects beta-globin gene production. Because of less production of beta gene the size of red blood cells gets reduced. And if you inherited with the Hb S gene then you will be suffering from Hemoglobin S beta Thalassemia.
Hemoglobin SB 0 (Beta-zero) Thalassemia – The “zero” indicates that the blood has no normal hemoglobin. The symptoms of Hemoglobin Beta-zero Thalassemia is more severe.
Hemoglobin SD, hemoglobin SE, and hemoglobin SO – These types of sickle cell diseases are uncommon (rarely caused disease).
Symptoms of Sickle Cell Diseases (SCD)
Anemia: Lacking of hemoglobin (healthy RBCs) in the blood causes anemia. Sickle cells die earlier in comparison to normal red blood cells as sickle cells maximum life span is of 10 to 20 days and the healthy red blood cells life span is of 120 days.
Hand-foot syndrome (Veno-occlusive Crisis): Hand-foot syndrome is caused due to less oxygen flow in the body tissues. Due to this syndrome hand palms and feet of the patients get swollen. In the hand and feet pain, redness, and ulcers also caused.
Splenic Sequestration (Sequestration Crisis): Splenic sequestration is a blockage of the splenic vessels by sickle cells. It causes acute, painful enlargement of the spleen and drop in hemoglobin leading to sudden onset anemia. That is why parents are advised to palpate spleen at regular intervals and whenever they feel spleen is enlarging, they should immediately report to the doctor.
Acute Chest Syndrome: This is one of the major complications of sickle cell disease (SCD). In this patient suffers from respiratory distress and hypoxemia.
Stroke: Patients suffering from SCD may also develop stroke. This is due to damage induced to brain vasculature due to the abnormal shape of red cells. Stroke sufferers need regular red cell transfusion to keep sickle percentage below a certain level to prevent further damage to brain vessels.
Severe pain in arms, back, abdomen, and legs
Shortness of breath or difficulty in breathing
Blood flow blockage in the liver or spleen
Sickle cell disease (SCD) Treatment
There are numerous Sickle Cell Anaemia treatments namely; Antibiotics, Medication, Hydroxyurea, Bone Marrow Transplant, etc. But the Bone Marrow Transplant (BMT) / Stem Cell Transplant (SCT) is the permanent cure of sickle cell disease. From below read the treatments of Sickle Cell Disease.
Bone Marrow Transplant (BMT)
Bone Marrow Transplant (BMT) treatment is used for treating sickle cell disease (SCD). If the transplantation is done successfully then the patient can be cure from sickle cell disease. Some Sickle Cell Anemia sufferers condition is very critical in this situation it is very difficult to cure the disease.
There are two types of bone marrow transplantation that are Autologous and Allogeneic Transplant. Check the details regarding both transplants from below.
- Autologous Transplant – In this type of transplant the patient’s own stem cells are used for doing the treatment. The patient’s stem cells are taken from the blood and preserved by using the Cryopreservation method (Cryopreservation is the type of preservation method from which tissues, cells, and other biological substances are preserved by freezing it at very low temperatures.
- Allergenic Transplant – For doing this treatment stem cells of the donor is required. But for making this treatment successful it is necessary that the donor and patients both have similar HLA tissue.
Antibiotics like penicillin may be given to infants from the age of 2 months to 5 years. By giving penicillin antibiotics, pneumonia can be cured in sickle cell patients.
Pain relieving medication is used to reduce pain during a sickle crisis. You may need over-the-counter drugs or strong prescription pain medication like morphine.
Hydroxyurea (Droxia, Hydrea) helps in increasing the production of fetal hemoglobin. It may also reduce the number of blood transfusions and the frequency of painful crises. Hydroxyurea increases the risk of infections, and regular intake of this can may cause side effects which will seem later in life.
Blood Transfusion is a routine medical procedure in which donated blood is provided to the patients through a narrow tube placed within a vein in your arm. Blood transfusions increase the number of normal red blood cells and this improves the transport of oxygen and nutrients to the body of sickle cell disease. Regular Blood Transfusions can decrease the high risk of stroke in the children suffering from sickle cell anemia. Other sickle cell disease complications can also be treated by Transfusions.
Blood transfusions also cause some side effects that are – Excess iron can damage your heart, liver and other organs, Infections.