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Sickle Cell Disease

16 June 2022 | 13 mins read | Sickle Cell Disease

Sickle cell affects millions of people around the world, causing severe pain and life-threatening complications.  In some resource-poor countries, fewer than half of the children born with sickle cell disease reach their fifth birthday. In other countries such as the U.S, most people with the disease survive well into adulthood but receive substandard care. 

 

WHAT IS SICKLE CELL?  

Healthy red blood cells are round and flexible. Sickle cells are crescent-shaped, sticky, and stiff.  They are unable to squeeze through the tiny blood vessels that line virtually every part of our body.  They clump together, preventing oxygen and essential nutrients from flowing through the blood vessels. This causes pain that can be severe enough to require hospitalization and causes life-threatening complications.  

Sickle cell anemia is the most common form of sickle cell disease. A person with anemia doesn’t have enough healthy red blood cells. Red blood cells are important because they carry oxygen from the lungs to the rest of the body.  Without enough oxygen, our bodies’ cells, tissues, and organs will become damaged and eventually stop functioning. 

 

 WHAT ARE COMPLICATIONS OF SICKLE CELL? 

Some complications of sickle cell are: 

  • Severe pain. An episode of pain is called a pain crisis.  
  • Weak bones, leading to fractures.
  • Blood clots, causing strokes or pulmonary embolism. 
  • Kidney damage.
  • Blindness
  • Extreme fatigue.
  • Difficulty breathing
  • Ulcerated skin
  • Susceptibility to infection.

 

Complications can begin to occur in babies only a few months after birth, and they can continue to develop for as long as the person is alive.    

  

CAN PAIN CRISES OR COMPLICATIONS BE PREVENTED?  

It is not possible to prevent all pain crises or complications.  However, with a combination of medical treatments and lifestyle interventions, it is possible to reduce pain and minimize hospitalizations and visits to the emergency room.   

 

Medical treatments include:  

  • Hydroxyurea, with careful monitoring, to prevent pain.
  • Prophylactic antibiotics to prevent infection. 
  • Vaccination against the pneumococcus bacteria.   
  • Folic acid supplementation to help with red blood cell production. 

 

Self-directed interventions include:  

  • Avoiding overexertion 
  • Staying well hydrated.   
  • Wearing a mask when near people who might be contagious. 
  • Including a hematologist (blood specialist) on the care team        

 

WHAT ARE THE TREATMENTS FOR SICKLE CELL?  

Treatments for sickle cell include: 

  • Blood transfusions 
  • Automated red-cell exchange
  • Pain control
  • L-glutamine to improve red blood cell flexibility.   

 

IS SICKLE CELL CURABLE?  

A stem cell transplant is currently the only cure.  However, stem cell transplants are only available to a tiny fraction of people who might benefit from them.  This is because: 

  • The process is grueling.  Before the transplant can be done, numerous tests followed by strong chemotherapy are required.    
  • The donor’s cells must be a good ‘match’ with the recipient’s cells.  There is no guarantee of finding a match.  
  • The cost can be prohibitive.  
  • The parent or caregiver may be away from home for an extended period.   

 

 HOW DO YOU GET SICKLE CELL? 

Sickle cell is passed down from parent to child and is therefore present at birth. For a child to be born with sickle cell disease, they must receive one copy of the sickle cell gene from each parent.   

Therefore: 

  • If both parents carry the sickle cell gene, and a copy of that gene is passed down from both parents, that child will have two copies of the gene and will be born with sickle cell disease.   
  • If neither parent passes down the gene the child will have no copies of the sickle cell gene and will not have the disease.  
  • If both parents carry the sickle cell gene but only one parent passes it down to the child, the child will have one copy of the gene. That child will not have sickle cell disease, but they will be a carrier of the gene.  This is called “sickle cell trait”.  

 

WHAT IS SICKLE CELL TRAIT?  

Having sickle cell trait means that the child received a copy of the sickle cell gene from one parent and a copy of a normal gene from the other parent. Because sickle cell is a recessive trait, the normal gene will direct red blood cell development. The child’s red blood cells will be round and flexible rather than sickled and stiff.  In other words, normal.   

Because they rarely have any symptoms of sickle cell, people with sickle cell trait might have no idea that they inherited the gene from one of their parents.  But as carriers, they can unknowingly pass it on to their own children.   

The gene for sickle cell can be detected by a simple, widely available blood test, but this is not routinely offered everywhere, or to everyone.   

 

WHO GETS SICKLE CELL?  

Sickle cell is most prevalent in people whose ancestors are from sub-Saharan Africa.  However, sickle cell is also seen in people whose ancestors are from several other regions.  These include  

  • India
  • Central America
  • South America
  • the Middle East 
  • the Caribbean islands  
  • the Mediterranean region.

  

RAISING AWARENESS AND UNDERSTANDING OF SICKLE CELL DISEASE 

Awareness and understanding of sickle cell vary tremendously, not only from country to country, but even from hospital to hospital.  Even in wealthy developed countries, many people endure long waits for pain relief, have limited access to preventive therapies and cutting-edge or even standard treatments, and are deprived of opportunities for preconception counseling and genetic testing.   And in many developing countries or remote areas, the treatments for sickle cell are minimal or even non-existent.   

Increased funding for sickle cell is critical in promoting treatment guidelines; raising awareness among both physicians and prospective parents about genetic testing; helping to develop affordable, globally available treatments, and researching ways to eradicate this heart-wrenching disease.  

 

HOW HALZA HELPS

Manage your family’s health easily with the Halza app. Store, track & share all of your child’s medical records to have them with you, wherever you go. Monitor your child’s growth and vaccination schedule as well as upload reports and doctor’s notes all with the Halza app. QuickShare a complete overview of you or your child’s health with any attending doctor in seconds, during emergencies or whenever you need. 

Simplify your health journey with Halza. 

Jill Garner
Jill GarnerRegistered Nurse and Diabetes Educator
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