Sickle Cell Disease

 Sickle cell disease is a group of red blood cell disorder which the patient inherits from parents. 

Red blood cell contain hemoglobin which carries oxygen to all cells of body. Normally red blood cells are disc shaped structures which can pass through narrowest blood vessels. In sickle cell disease there shape is sickle shaped and they can not pass through blood vessels. This may result in blocking of blood vessels which can lead to stroke, eye problems, edema and many other conditions may develop. 

Sickle cell disease is a life long disease. Only treatment available are blood and bone marrow transplant.

Symptoms of Sickle Cell Disease

This disease is present by birth. First symptoms often occur at 5 to 6 months of age. Different symptoms are present at different times. 

Yellow coloration of skin: 

Red blood cells have a life span of 120 days. When they breakdown, their hemoglobin comes to liver and converted to bilirubin. Due to defect in shape in sickle cell disease lot of red blood cells are broken down and much more bilirubin is produced giving skin a yellow coloration called jaundice.  

When there is less number of red blood cells; there will be anemia. Lack of oxygen will result in extreme tiredness.

Sickle Cell Anemia:

This is a severe condition. Anemia means less number of red blood cells and less hemoglobin to carry oxygen to all cells of your body. Sickle cell anemia occurs when you receive a sickle cell gene from each parent. 

Sickle Cell Trait

When you receive sickle cell gene from one parent and you have other gene normal you may not develop serious disease. But you will have sickle cell trait and you can transfer disease to your offspring.

Dactylitis: 

Painful swelling of hands and feet. This may occur periodically and this is the most common symptom of disease. 

Acute Chest Syndrome: 

Blockage of blood vessels may lead to chest pain, fever cough and shortness of breath. This condition is an acute medical emergency and need immediate admission to hospital. You will be administered antibiotics, oxygen and or a blood transfusion. 

Symptoms of Stroke:

Sudden weakness, numbness of one side of body, confusion and difficulty in speaking; all are warning signs of stroke. This condition also require immediate hospital admission and prompt medical treatment. 

Priapism:

Continuous erection of 4 hours or more requires medical attention and you must see a hematologist or a urologist. 

Diagnosis sickle cell disease

A blood test will reveal that shape of red blood cells is not normal. There may also be anemia present. 

All newborns should be screened. A simple heel prick and collection of sample to perform a screening test is all that is required. 

If a newborn is tested positive; parents should be informed and counseling must be done.

In people who are suspected of having sickle cell disease prenatal test of amniotic fluid, (the liquid present in the sac surrounding growing embryo) will reveal presence of disease. 

Treatment:

Currently curing treatment for some patient is blood and bone marrow transplant. How ever new treatment are being researched. 

Crizanlizumab (brand name: Adakveo) and L-glutamine oral powder ( brand name Endari) are being used to decrease the frequency of pain crisis.

Hydroxyurea; another drug used to reduce the number of attacks. 

Non steroidal anti inflammatory drugs (NSAIDS) like ibuprofen and acetaminophen are being used to reduce pain. 

Voxelotor (Oxbryta) to reduce anemia. 

Gene therapy is not available but in future it may be a curative treatment.

How you can live with sickle cell disease

Take regular exercise, drink plenty of water, Don't smoke, eat fresh vegetable to get folic acid so bone marrow can make new red cells. 

Get vaccinated against flu and other disease to prevent serious illness.