Sickle cell disease is a blood disorder in which there is abnormal production of hemoglobin. Learn the causes, symptoms of this disease and how it is diagnosed and treated.
Last Updated: 23 October 2020
Sickle cell disease is an inherited blood disorder in which red blood cells are sickle shaped which results in defective production of hemoglobin. Hemoglobin carries oxygen to all parts of the body. With sickle cell disease, children’s organs and tissues don’t get enough oxygen.
Healthy red blood cells (look like letter “O”) with normal hemoglobin can easily traverse through the blood vessels. But in the case of sickle cell disease the red blood cells look like letter C (crescent moons) and these cells become hard, sticky and get clumped. This makes it difficult for the cells to move through the blood vessels. These sickle red cells get stuck in small blood vessels and hence blood flow is blocked. The blockage results in pain and damage to major organs.
The normal lifespan of red blood cells is 120 days. However sickle cells have limited life span of 10 to 20 days. In children with SCD, the low number of healthy red blood cells and defective hemoglobin results in anemia. Sickle cells also affect spleen which is necessary to filter out the infections.Types of Sickle cell disease
Sickle cell anemia: This is the most common form of sickle cell disease. In this condition, chronic anemia is seen. The child has two copies of HbS (sickle hemoglobin) gene.
Sickle cell hemoglobin SC disease: In this type, a child has one HbS gene and one defective HbC gene. Mild form of anemia is seen.
Hemoglobin S-β-thalassemia: The child has one HbS gene and one β thalassemia gene. The intensity of the anemia varies depending upon the genetic type.
Sickle cell trait: The child carries one defective gene. Some of their hemoglobin is HbS and some normal hemoglobin HbA is also seen. Most children live normal lives.Occurrence
This disease is primarily observed in the African descent and Hispanics of Caribbean ancestry and also noticed in Middle Eastern, Indian, Latin American, American Indian, and Mediterranean heritage. It is estimated that 300,000 children are born with sickle cell disease each year. Having a family history of sickle cell disease increases the chance of a child born with SCD. Males and females are equally affected.Causes of sickle cell disease in children
Sickle cell disease is due to a mutation in a gene (on chromosome 11) that codes for hemoglobin. The disease is seen when a child inherits two sickle cell genes, one from each parent. A child is a carrier of the disease (but healthy) if he has one sickle cell gene. If both mother and father are carriers of the disease, there is a greater probability that a child will have sickle cell disease. Parents, who have one child with sickle cell disease, possess a 1 in 4 chance of having another child born with sickle cell disease. Also there is a 1 in 2 chance that a child will be a carrier, like the parents.Symptoms
The following are the main symptoms of the disease
· Anemia- Having few red blood cells cause anemia
· Pain in any part of the body
· Painful swelling of hands and feet
· Acute chest syndrome- Sickle cells stick together and block oxygen flow in the lungs
· Splenic sequestration- spleen gets enlarged and painful as spleen gets stuck and builds up there
· Jaundice or yellowing of the skin
· Bacterial infection and sepsis
· Bone, skin and kidney damage
· Vision problems
Diagnosis of SCD
A complete physical examination and family history will be collected. Newborn screening including hemoglobinopathy (to detect abnormalities in hemoglobin) testing will be done.
If any abnormalities are identified in newborn screening tests, hemoglobin electrophoresis will be performed. A hemoglobin electrophoresis is a blood test to detect whether a child is a carrier of sickle cell trait or has any diseases associated with sickle cell gene.Treatment of SCD
Treatment will be based on your child’s age and health and extent of the disease. Drinking plenty of water helps prevent pain crises. Medications include pain killers, vaccines and antibiotics (for infections), folic acid (for anemia) and hydroxyurea (for chest syndrome). If necessary, blood transfusions and bone marrow transplantation will be performed.Long term outlook
SCD is a serious and fatal disease. Early diagnosis and treatment helps in increasing the survival rate of patients. If a child has SCD, make sure he gets a healthy diet, proper sleep and drink plenty of fluids. Help your child in staying away from infections. Always be in touch with a healthcare provider to prevent major complications.