WHAT IS SICKLE CELL DISEASE ?!

Most of us cannot remember the 2 paragraphs covering Sickle Cell Disease in high school biology, let alone half of the content that was skimmed through.

Well I remember that class. They spoke about something I was personally experiencing everyday of my life. I was afraid that i would be found out. My deep dark secret that wasn't so secret would be found out. Well, that was back then.

For those who still remain bamboozled about this disease Lea keeps speaking of, this is for you.

Imagine living with the barely half the amount of blood(HB) meant for a normal person. Imagine having frequent pain attacks in different areas of your body that can only be remedied by expensive opiate based painkillers. Imagine being pronounced dead before death even knocks by your door. And to add insult to injury, there are no adequate facilities and support structures for people living with Sickle Cell. Moreover, it's inconclusive as to how many people actually carry the Sickle Cell gene and the disease in Kenya.

Sickle Cell Disease has been labeled so many things, I fail to keep track. Some think it’s a form of yellow fever, Leukemia, Lupus, Hemophilia, Malaria, Witch craft, HIV, Epilepsy etc.  Well its certainly not that. Its funny how people tend to judge and label that which they don’t understand so as to provide some sort of meaning to it. However in most cases, that which is not properly defined will continue to carry a misconstrued interpretation until such a time when knowledge is made available. This is that time people!

So..

Sickle Cell Disease is therefore a group of genetic/inherited red blood cell disorders. Normal red blood cells are round like doughnuts, and they move through small blood vessels in the body to deliver oxygen and nutrients. Sickled red blood cells become hard, sticky and shaped like sickles used to harvest rice. When these hard and pointed red cells go through the small blood vessels, they clog the flow and break apart. This can cause pain, organ damage and a low blood count, or anemia. If you didn't know this already, let me be the first to tell you. I have Sickle Cell Disease and truthfully, its not as bad as it looks or sounds. 

Sickled Red Blood Cells

Okay. So what then makes the red blood cells sickle?

Simple, DNA. Before I take you back to school, lets clarify on some basics. 

There is a substance in the red blood cell called hemoglobin that carries oxygen inside the cell. One little change in this substance hemoglobin causes the hemoglobin to form long rods in the red cell when it gives away oxygen. These rigid rods change the red cell into a sickle shape instead of the round shape. 

That change that causes the Sickle Cell deformation is caused by a single change of the amino acid building blocks of the oxygen-transport protein, hemoglobin. We all (well some of us) know that the molecule, DNA, is the fundamental genetic material that determines the arrangement of amino acid building blocks in all proteins including hemoglobin. If this is the case then, the glitch comes in when the arrangement of the amino acids is screwed up. In this particular case of Sickle Cell, one of the amino acids in the protein hemoglobin is miss-arranged (screwed up). Valine is at a position meant for Glutamic acid. Well this tiny and seemingly insignificant change causes a big difference in the morphology of hemoglobin to cause the appearance Sickle hemoglobin in the red cells. Sickle hemoglobin exist as isolated units in red blood cells when they have oxygen. When this Sickle hemoglobin releases oxygen, however, the molecules tend to stick together and form long chains or polymers. These rigid polymers distort the red cell and cause it to bend out of shape to a crescent-like shape.   This is what causes the sickling. 

Do I have Sickle Cell Disease? How did you get Sickle Cell Disease or trait?

I inherited the abnormal hemoglobin from my parents, who are carriers of the Sickle Cell trait. One can also get it if their parents have Sickle Cell Disease. The chances vary, however it totally depends on how genetics work out. Like I know that I may give birth to normal kids, Sickle Cell carriers or children with Sickle Cell Disease. It’s all uncertain. Please note, you cannot catch/contract it. You are born with the Sickle Cell hemoglobin and it is present for life. If you inherit only one Sickle gene, you have Sickle Cell trait. If you inherit two sickle cell genes you have Sickle Cell Disease, like me. 

Sickle Cell Gene Diagram

I am lost now. I don’t understand this Sickle Cell Trait term?

Sickle cell trait is a person who carries one sickle hemoglobin producing gene inherited from their parents and one normal hemoglobin gene. Normal hemoglobin is called type A. Sickle cell hemoglobin called S. Sickle Cell trait is the presence of hemoglobin AS. People who have Sickle Cell trait are known as Sickle Cell Carriers. They carry the one Sickle hemoglobin producing gene and in many cases don’t experience the symptoms of a person with Sickle Cell Disease. This however is dependent on certain physiological factors that when adverse, may trigger these symptoms.

In Kenya, very few people know about Sickle Cell Disease and even fewer know there Sickle Cell status. Most people are shocked into knowledge when they give birth to children with Sickle Cell Disease and are rendered helpless and misinformed on how to move forward.

This is the first step towards empowerment. Let me know if you have Sickle Cell Disease or if you know anyone with Sickle Cell Disease? Tell us how you came to learn about the disease.

Lets chat in the comment section below as we wait for the next series that will inform you how to know your SCD status and so much more.

Until then,

Love Life!

Lea