What is Sickle Cell Disease?
Sickle cell disease (SCD) is a rare blood disorder that is inherited in an autosomal recessive manner.
It is characterized by the sickle or crescent shaped, red blood cells (erothrocytes) in interact with other cells and the blood clotting system to block blood flow in the very tiny blood vessels of the peripheral blood system.
This blockage prevents the normal flow of nutrition and oxygen.
The blocked blood flow can also cause severe organ damage including stroke.
Acute chest syndrome can occur in an individual if an infection or sickle cell damages lungs.
Boys and men with SCD may experience painful prolonged erections at any age.
The extreme pain episodes of SCD are triggered by something like getting cold, being dehydration, trauma or infections.
What are the causes?
SCD is caused by mutations in the haemoglobin beta and is inherited as an autosomal recessive trait.
If an individual receives one normal gene and one gene with SCD the person will be a carrier and usually show no symptoms, however for people who receive the sickle mutation from both parents have the disease and show symptoms.
Signs and Symptoms:
The signs and symptoms of SCD vary from patient to patient as some have mild symptoms while others have more severe symptoms requiring hospitalization.
It is present at birth however most infants do not show the signs until they are at least 4 months and some don’t show signs until several years of age.
These symptoms typically begin in the first 3 years of age and these include:
- Low red blood cells (anemia)
- Pain typically in bones and the abdomen
- Feeling tired and fatigued
- Yellow eyes
- Enlarge spleen
Signs in infants-
- Swollen or painful hands/ feet
- Crying
- Severe infections
- Irritability
Forms of SCD:
It has several forms which are:
- Sickle Cell Anemia
- Sickle Cell Hemoglobin C disease
- Sickle Cell thalassemia disease
Complications of SCD:
Sickle cell can result in the development of a number of complications which are:
- Stroke
- Acute chest syndrome
- Pulmonary hypertension- such as shortness of breath, fatigue which can be fatal
- Blindness
- Leg ulcers- open sores on legs
- Gallstones
- Pregnancy complications
- Organ damage- most parts of the body including the brain, lungs, kidneys and joints
Affected populations:
The number of people affected by SCD varies from time to time.
In the United State (US) it affects about 0.6% of the African American population. It is also common in the Hispanic people from India, Central America and the Arabian Peninsula. In some African countries approximately 40% of the general population is affected.
It affects approximately 1 in every 300-500 African American babies.
However it can occur in people of any background.
Treatment:
- Patient and family education.
- Medication such as hydroxycarbamide
- Early testing
- Staying hydrated
- Avoiding getting too cold or too hot.
- Exercising
- Avoiding getting fatigued
- Avoiding trauma
- Relaxation through taking deep breathes, massages, acupuncture and hypnosis
- Pain-relief medication
- Blood transfusion
- Surgery
- Stem cell transplant