Sickle cell disease (SCD) is a type of anemia that develops during birth due to the autosomal recessive mutation. In layman’s term, an abnormality will occur in the red blood cell structure and function. The autosomal recessive mutation occurs when the parents are positive carriers of the SCD. As a result, there’s a 25% chance that their child will inherit the disease.
In this condition, the individual will have an irregular RBC is forming a crescent-like shape. The hemoglobin forms strands inside the red blood cell and causes the cell to deform into a crescent-like shape. The structure of the RBCs becomes a viscid causing blockage in the blood flow. Thus, the anemic condition will develop, and the symptoms will start to occur.
However, the sickle cell disease does not only concentrate on the red blood cells, but it may also cause damage to the heart, spleen, bone marrow, and other internal organs of the body. With this regard, how can the medical professionals treat this disease?
Prognostic Factors to Predict the Outcome of the Sickle Cell Disease
1. Etiology: Genotype and Phenotype Influences on the SCD
Chromosome 11 carries the gene-rich and disease-rich DNA makeup and each cell represents around 4% of the DNA structure. It is one of the 23 pairs of chromosomes that spans 135 million base pairs. The base pair is an essential building material for the DNA.
Normal hemoglobin has two subunits of amino acids present in its structure. These are known as the alpha and beta subunits. An individual experiencing SCD will usually have normal alpha subunits but abnormal beta subunits. What causes the beta subunit to be dysfunctional? It’s the alteration of the glutamic acid into Valine in position six present in Chromosome 11.
This further explains the genotype occurrences associated with the sickle cell disease. However, the phenotype occurrence may also influence the sickle cell disease to be aggravated or ameliorated. These are some of the causes that may have an impact on the SCD:
- Changes in the Temperature Levels
- Emotional Stress
- High Altitude and Hypoxia
- Infection (e.g. Parvovirus B19)
- Cold Weather
- Alcohol Intoxication
- Ingestion of toxins in the Bone Marrow (e.g. Phenylbutazone)
2. Histopathology: Understanding the Types of SCD Crises
A study and medical research must be performed to fully determine the medical attention needed to treat the SCD. However, you should understand the different types of SCD crises first to know the diseases associated with the SCD. Here are the following types of crises:
- Vaso-occlusive Crisis – this occurs when the sickle cell disease causes obstruction in the capillaries. It restricts the passage of the blow flow to the organs. Hence, this condition may further result in pain, damaged organ, ischemia, and necrosis.
- Aplastic Crisis – this happens when the parvovirus B19 invades the production of the red blood cells. It will multiply and destroy the RBCs causing fast heart-beat rate, paleness, and fatigue.
- Splenic Sequestration Crisis – it refers to the condition wherein there’s an enlargement of the spleen due to the increased risk of infection. With this regard, the spleen will find it difficult to remove the old RBCs and synthesize antibodies to fight the bacteria.
- Hemolytic Crisis – this occurs when there’s a sudden drop in the hemoglobin level due to the accelerated breakdown of the red blood cells. Generally, patients with G6PD deficiencies are prone to this condition.
- Acute Chest Syndrome – this is the inflammation of the lungs due to the infections and there’s a sudden saturation of the oxygen hence, sickling the RBCs. The patients will experience chest pain, focal abnormality, respiratory problems, fever, hypoxemia, and pulmonary infiltration.
- Dactylitis – it refers to the inflammation of the finger or toe due to the infections caused by the sickle cell anemia.
It is important to diagnose the patient as early as possible to know the associated diseases linked to the SCD. A health care provider and an expert doctor should always be accessible such as the Xpertdox. In this way, the patient will be able to consult a licensed and expert physician as soon as possible to treat the disease.
3. Pathophysiology: Hemoglobin Molecules Polymerization
The autosomal recessive mutation can cause polymerization in the hemoglobin molecules that causes sickling of the RBCs. Aside from the genes, the phenotype phenomenon occurs that may cause the SCD, such as stress, fatigue, dehydration etc.…
These circumstances may develop high risks of getting a sickle cell disease because these issues may contribute to the reperfusion of the SCD.
- Increase in the Potassium Levels
- Gardo’s Channels
- Increase Neutrophil adhesiveness
- Increase Platelet activation
- Changes in cation Homeostasis
- Water Efflux
- Nitric Oxide Binding
4. Epidemiology: Survival and Control of the Disease
Sickle Cell Disease Statistics and Impact
According to the Centers for Disease Control and Prevention, the SCD causes health deprivation in almost millions of people throughout the world. Generally, the people affected with this disease lived in the United States, Saharan Africa, Western Hemisphere, India, the Mediterranean Basin, and Saudi Arabia. Even today, it is difficult to predict the exact number of people affected with this disease.
We have gathered the medical facts and scholarly research from the Centers for Disease Control and Prevention, and the National Center for Biotechnology Information. These are the latest estimates and statistics for the sickle cell disease carriers:
- For every 1 out of 13 African-American infants were affected with a sickle cell trait.
- For every 1 out of 16,300 Hispanic-American babies suffered from the SCD
- For every 1 out of 500 African-American births suffered from an SCD condition
- About 1 out of 12 African-American carry the autosomal recessive mutation
- Approximately around 300,000 infants suffered from Sickle Cell Anemia
A thorough examination and laboratory diagnosis is a must to identify the origins of this disease. Instead of treating the disease itself, there should be prevented prior to the manifestation of the sickle cell disease.
Prevention and Control of the Sickle Cell Disease
Prevention and healthy living may contribute to a lesser chance of getting this disease. If you are affected or a carrier of this disease, you should pay attention to the basic healthy lifestyles. It is important to maintain a balanced diet, exercises vigorously, and sleep properly
You must undergo a series of laboratory tests to check your overall health condition. If you have associated diseases, you should discuss with your doctor. In some cases, doctors may advise you to undergo an imaging lab test, pharmacotherapy, and non-pharmacotherapy medications.
The main objective of the medications is to control and manage the symptoms and disease complications of the SCD. In this way, the patient can live longer and surpass the 40 to 60 age limits for the SCD. Here are the medication strategies for the sickle cell disease:
- Treatment of the Pulmonary Hypertension
- Detection and Prevention of the Infections
- Treatment of the Damage Organs and Complications associated with the SCD
- Detection and Prevention of Stroke
- Treatment of the Chronic Pain Syndrome, Chronic Hemolytic Anemia, and Vaco-occlusive crisis