Sickle Cell Disease (SCD) is one of the most common hereditary blood disorders. It is generally passed on to children from their parents and runs through in the family. The Sickle Cell Disease is a generic term for a group of genetic disorders that are a characterised by the predominance of Haemoglobin S. The disorders include Sickle Beta Thalassemia Syndromes, Sickle Cell Anaemia, and hemoglobinopathies. The disease is called Sickle Cell Disease because in this condition the Red Blood Cells look like a Sickle, a C-shaped tool used for cutting purpose in farms.
Here are a few important and must-know insights on this condition:
1. The Red Blood Cells contain haemoglobin which is responsible for carrying oxygen throughout your body. Healthy Red Blood Cells are round and are flexible. This shape helps the Red Blood cells glide easily through the bloodstream. However, if you are suffering from Sickle Cell Disease, the shape of the Red Blood Cells are abnormal, and as a result, they cannot glide smoothly and tend to get clumped. This blocks blood flow in your system, thus causing anaemia, pain, and other conditions.
2. A genetic defect is a reason behind Sickle Cell Disease. It is caused due to a problem in the haemoglobin beta gene which is found in Chromosome 11. A child has Sickle Cell Disease only when both the parents pass that abnormal haemoglobin gene to that child. If both the parents are carrying that gene you have 1 out of 4 chances of inheriting that condition.
3. If any child is born with only one defective haemoglobin gene, then he or she won’t acquire the disease but will become its carrier. This means that child will pass on the disease to his or her future children in case that his or her partner also carries traits of Sickle Cell Disease.
Sickle Cell disease is mainly classified into four types. This includes:
4. Sickle Cell Anaemia or Haemoglobin SS Disease (HbSS)
This is the most common type of Sickle Cell Disease. This is the type where the homozygosity of the abnormal gene mutation causes the production of abnormal Red Blood Cells or Sickle Haemoglobin. This condition occurs when the child acquires the abnormal gene from both the parents. This is the most serious form of the disease and can cause serious complications.
5. Sickle Cell Disease-SC or Haemoglobin SC disease (HbSC)
This is the second most common type of sickle cell disease. This condition is caused when you inherit an Hb-C gene from one parent and an Hb-S gene from another parent. As a result of two similar gene defect, you will experience similar effects and symptoms as experienced by patients suffering from HbSS.
6. Sickle Beta Thalassemia or Haemoglobin SB+ (Beta) thalassemia
This condition affects the production of beta globin gene. This condition occurs when the child gets a Thalassemia gene mutation from one parent and Sickle gene mutation from another. A person suffering from Sickle Beta Thalassemia has the characteristics of both the blood diseases.
7. Sickle Beta Zero Thalassemia or Haemoglobin SB 0 (Bet-Zero) Thalassemia
This type of Sickel Cell Disease involves the Beta Globin gene and has similar symptoms to HbSS. However, sometimes the symptoms of this condition get more severe
8. Haemoglobin SE, Haemoglobin SD, and Haemoglobin SO
This type of Sickle Cell disease is rare and usually do not have severe symptoms.
9. Sickle Cell Trait
This is the condition where a person possesses a normal adult haemoglobin gene and inherits only one abnormal sickle gene. This condition is also known as heterozygous as two different genes are present in the patient. A person having this type of condition is also referred as Sickle Cell Disease carrier. Usually, people having this condition do not experience any symptoms. However, they can pass the gene to their future children who may suffer from Sickle Cell Disease if the other parent is also a carrier.
Who are at risk of acquiring this condition?
5. Children who are born to parents carrying Sickle Cell traits are susceptible to develop Sickle Cell Disease. Apart from that person belonging to regions that have endemic malaria are also likely to be carriers of this condition. The regions include India, Africa, Saudi Arabia, and the Mediterranean.
6. Sickle Cell Disease can cause a number of complications which mainly arise when the Sickle Cell blood cells move to different areas of the body through the blood stream. When the abnormal blood cells cause blockage in various areas, it’s called sickle cell crises. This can be caused by a number of conditions that includes changes in temperature, altitude, illness, stress, and poor hydration.
Sickle Cell Disease and Sickle Cell Anaemia causes many complications. This includes:
Anaemia is a condition arising from the shortage of Red Blood Cells. Sickle Cells get damaged easily. They break apart which is also called Chronic Haemolysis. A normal RBC usually lives for 120 days while Sickle Cells live for 10 or 20 days.
8. Splenic Sequestration
This condition arises when the sickle cell blocks the splenic vessels causing spleen enlargement. This can be extremely painful. In case of complications, the spleen might have to be removed through a procedure called Splenectomy. Splenic Sequestration damages the spleen to the point that it shrinks and stops functioning at all. This condition is known as auto splenectomy. Patients without a spleen are at greater risk of getting infected by Salmonella, Streptococcus, and Haemophilus.
9. Hand and Foot Syndrome
This condition appears when the abnormal RBCs block the blood vessels in your hands and feet causing them to swell. Moreover, this condition might also cause ulcers in the legs. Swollen legs and hands are often the first and the most apparent signs of Sickle Cell disease in infants.
10. Neurological Problems
Persons suffering from Sickle Cell Disease can experience seizures, strokes, and can even go into a coma. Brain blockage mainly causes this.
11. Delayed Growth in Children
Growth is often delayed in children suffering from Sickle Cell Disease. They are usually shorter in height. Sexual maturation is also delayed in them. This happens because the sickle cell RBC cannot supply enough nutrients and oxygen to different parts of the body.
12. Heart Disease
Since the abnormal RBCs cannot supply blood and oxygen, it might also result in abnormal heart function causing heart attack, and hearts failure.
13. Sickle Chest Syndrome
This condition results from severe sickle cell crisis. The sufferer experience chest pain along with associated symptoms such as fever, cough, low blood oxygen level, sputum production.
Diagnosis of Sickle Cell Disease
14. The doctor might conduct a test for diagnosing Sickle Cell Disease if you have any of the following conditions:
• Spleen enlargement with severe pain
• Pain in the bones
• growth problems
• Ulcers in the legs
• respiratory infections
• heart problems
15. The Doctor will conduct blood tests to check whether the Hb levels are normal or not. Blood films can also reveal the abnormal shape of your RBCs. The Doctor will also conduct sickle solubility test to detect the presence of Hb S.
16. The doctor will also conduct Hb Electrophoresis. This test is for confirming the diagnosis of Sickle Cell Disease. This test is used to measure the different types of haemoglobin in the blood.
Treatment of Sickle Cell Disease
Sickle Cell Disease can be treated through the following methods:
17. Rehydration with intravenous fluids helps the red blood cells to return to their normal shape and function properly. However, if you are dehydrated, the red blood cells will again deform and assume the abnormal sickle shape.
18. For managing the crisis, treatment of the associated infections is critical. This is because the stress caused by the infection can further aggravate the sickle cell crisis. Moreover, the infection can also result in further complication of your condition.
19. Blood transfusion is another way of treating this condition. Blood transfusion helps in improving oxygen and nutrient transportation as needed. Packed red cells are removed from blood which is donated and are supplied to the patients.
20. Often, to meet the oxygen deprivation in your body, the doctor might also suggest giving supplemental oxygen through a mask. This makes breathing easier and helps in improving the oxygen levels in your blood.
21. Sickle Cell Disease causes severe pain. So, pain medication is also used for providing relief during sickle cell crisis (the painful clumping of sickle cells). The doctor might prescribe you over-the-counter drugs or strong pain medication such as morphine.
22. Hydroxyurea also helps in increasing the production of foetal haemoglobin. This might reduce the number of blood transfusions required.
23. Immunisations help in preventing infections as patients have lower immunity levels. Thus they are susceptible to infections which might aggravate the condition.
24. For treating sickle cell disease in children, doctors often prescribe bone marrow transplant. Children who are younger than 16 years of age and have severe complications can undergo bone marrow transplant in case a matching donor is available.
Early intervention is a must to treat this condition properly. We hope that these pointers will help you get an idea about Sickle Cell Disease.