Diseases

Sickle Cell Disease: A Matter of Concern!

According to the Centers for Disease Control and Prevention, sickle cell disease effects on average 100,000 Americans annually. 1 in every 13 African American babies is born with this illness. Statistics relating to 1999 show that people who were diagnosed with Sickle Cell Disease reduced their mortality rate by 24%.

The results seem startling and call for a major cause of concern. Before proceeding towards anything it is important to understand what really is this condition?

What is Sickle Cell Disease?

Sickle Cell Disease or Sickle Cell Anemia is a genetic disorder that particularly affects the red blood cells in the body. Normally, a healthy person will have red blood cells that have a disc-like structure which aid in the transportation of blood to different parts of the body. When Sickle Cell disease develops, the shape of the RBCs gets disrupted resulting in a crescent or sickle-like texture. Consequently, they become sticky and rigid forming a clot in the small blood vessels. This stops the blood transportation causing tissue damage and pain.

Sickle Cell Anemia is classified as an autosomal recessive disorder which means that one needs to have two copies of the gene to develop the condition. If only one gene is received through inheritance, the person will have a sickle cell trait but will not develop the disease as a result.

Symptoms

Symptoms of sickle cell anaemia can develop as early as at the age of four. However, they may get more expressive in the younger age.

Medical Scientists categorize several types of Sickle Cell Anemia. Symptoms may vary with each type though there are some common ones including:

  • Fatigue and irritability
  • Discharge of urine at night or bedwetting
  • Jaundice caused by an increased amount of bilirubin
  • Swelling of the limbs
  • Infections and fever at regular intervals
  • Severe pain in different parts of the body

Classification of Sickle Cell Disease

Haemoglobin in red blood cells is responsible for the transportation of oxygen. It has a pair of alpha and beta chains respectively. Researchers classify four types of Sickle Cell disease depending upon the mutation in these genes.

  1. Haemoglobin SS disease: The most common form of this disease with the most expressive symptoms. It develops when one inherits the haemoglobin S gene from both the parents allowing the gene to be dominant. The haemoglobin that develops as a consequence is referred to as Hb SS.
  2. Haemoglobin SC disease: Develops when one inherits the copy of Hemoglobin C gene from one parent and the S gene from the other forming Hb SC. The symptoms of this type are likely to be less severe than the SS disease.
  3. Haemoglobin SB+ (beta) thalassemia: Rarely the symptoms of this type get a chance to be severe, a person suffering from Hemoglobin SB+ (betta) thalassemia will have smaller size red blood cells due to decreased production of beta protein
  4. Haemoglobin SB 0 (beta-zero) thalassemia: This type is quite similar to the SS type. The symptoms are likely to get severe at one point and the chances or recovering remains minimal.

 Understanding the risks of Sickle Cell Anemia

A lot of studies have been concluded to study this disease, and it has been identified that people who suffer from endemic malaria (inhabitants of Africa, India) are more likely to be genetic carriers of Sickle Cell Disease.

Moreover, as mentioned earlier, the condition is likely to express itself when the two sickle cell trait genes are passed down to the baby. Parents as a precaution should have a haemoglobin electrophoresis test conducted on the baby in order to take control of the symptoms before they get severe.

Further Complications

Sickle Cell Anemia should not be sidelined as a  mild disorder as it is known to cause severe medical complications that might develop as a result. The disease can hamper the blood transportation to different parts of the body causing severe pain. This blockage is referred as sickle cell crises and the severity of it depends upon stress, temperature, hydration and altitude of the place person lives in.

Other Complications that are also likely to be the consequence of SCD include:

  • Anaemia: The most common complication of Sickle Disease, Anemia develops when the number of Red blood Cells in the body is significantly reduced. In normal circumstances, RBCs live up to 120 days but their lifespan is cut short to just 10 days with this disease
  • Stunted Growth in Children: Due to reduced oxygen and blood supply, children who suffer from Sickle Cell disease are often characterized by stunted growth in terms of height and body development. Studies have also shown that puberty with this condition arrives late and sexual maturation may not be experienced until the age of 18
  • Gallstones: Also referred to as pigment stones, unlike other complications that are caused by reduced blood supply, gallstones may develop due to an increased level of bilirubin. It is important to note that bilirubin is also responsible for causing jaundice in people.
  • Pulmonary Hypertension: Sickle Cell disease in a majority of the cases affects lungs. A reduced blood supply to the pulmonary region will result in high blood pressure and fibrosis. This, in turn, makes breathing difficult and the body receives a lesser supply of oxygen as a result.

 

Diagnosis

The medical procedures in the US that are carried out during birth period tests for the presence of Sickle Cell Disease. If known to be affecting the baby, the sickle cell genes are likely to be present in the amniotic fluid.

Adults, on the other hand, can make use of several blood tests to check for the presence of the genes. Some of the methods of diagnosis are discussed below:

  • Hb Level: tests for the abnormal count of Hemoglobin in the body. A patient suffering from SCD will have Hb level falling in the range of 6 to 8. While a normal healthy person will have a Hb level of 13.8 (on average)
  • Solubility Test: This will test the presence of Hb S in the body
  • Haemoglobin Electrophoresis: This test is carried out to identify the types of haemoglobin present in the body.

Moreover, it is imperative for the doctor as well as the patient to have a detailed history test conducted. Knowing the family history and identifying the known carrier can be one way of identifying the condition. Further to that, it is also important to look for the symptoms (mentioned above) to arrive at a clear conclusion.

Treatment, Care & Outlook

Fortunately, with the advancement in the field of medicine, medical scientists have come up with several effective ways of treating Sickle Cell Anemia and in other cases countering the severity of the symptoms.

The red blood cells can be brought back to their normal level through the intravenous fluid procedure. At the same time, it is important to make sure that the person is kept hydrated as Red Blood Cells can deform their shape in the when there is a rapid loss of water from the body.

Painkillers can lessen the intensity of pain, immunizers can counter infections and Hydroxyurea medications can propel the production of fetal haemoglobin.

In cases, when the sickle disease affects the lungs, oxygen can be provided through masks which helps retain the gas content in the body to the required level

Home remedies for Sickle Cell disease include replenishing the body with plenty of fluids, making use of heating pads for pain relief, controlling the diet by including green vegetables and finally exercising on daily basis to lessen the stress. Folic acid tablets are also recommended at times.

The long-term outlook of SCD depends firstly on the type from which the person is suffering from. SB+ thalassemia and SC type are treatable and symptoms may not be expressive to a very large extent. Either way, it becomes pertinent to know about the genetic history and have a thorough understanding of the condition so precautionary steps can be timely taken.

References:

https://www.ncbi.nlm.nih.gov/pubmed/170389

https://www.cdc.gov/ncbddd/sicklecell/data.html

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