……. because nowadays, with available testing, every one should check to know their sickle cell status.  Now of course, some people are at higher risk than others (African and African-American ancestry for example).  A person with sickle cell disease will know that they have it, but sickle cell trait typically does not cause any symptoms.  Individuals with sickle cell trait are more likely to be surprised to end up having a child with sickle cell disease.

As a Hematologist, I have seen the suffering that this disorder can cause.  If at all possible, it is better to prevent this disorder.  A person with the trait might decide not to get pregnant the natural way with similar people.  One could consider in vitro fertilization and pre-implantation genetic diagnosis, if they are comfortable with such.

What is sickle cell disease all about?  

Well, consider that everyone has blood running through their arteries then capillaries then veins.  Blood has 3 main kinds of cells – red cells, white cells, and platelets (these are cell fragments actually).  Red cells have a pigment that causes the red color, a pigment called hemoglobin.  This pigment allows red cells to carry oxygen and get it to tissues of the body.  In sickle cell disease, there is something wrong with this pigment so the red cell is less flexible and might “sickle”.  In small blood vessels, these inflexible or sickle cells block the capillaries and this blockage might cause pain and other symptoms.  This blockage causes sickle cell crises which may include pain in the chest, abdomen, and bones.   People with sickle cell trait have some sickle hemoglobin but not as much as people with sickle cell disease.  An average person with the trait, would not usually have crises except in some extreme conditions.

Why are organs damaged by sickle cell disease?

Well, having small blood vessels (and capillaries) blocked by sickled red cells means those tissues do not get enough oxygen.  Over time, this can cause damage to organs like the heart, lungs, bones, liver, and kidney.  Having red cells made with faulty pigment, means that the bone marrow is always trying to compensate by making even more (defective) red cells.  This process is “inefficient” and faulty red cells are more likely to be trapped and destroyed in certain organs in the body.  This accelerated red cell destruction can cause problems like iron overload and high bile levels.  Bile is made when hemoglobin is degraded.  High bile levels can cause jaundice (yellow eyes and skin) and pigment stones.  Too much iron can damage joints, liver and the heart, and can also damage organs like the pancreas (diabetes may result).  Having red cells broken up too quickly causes anemia.  Having anemia all the time can affect heart and lung function, and reduce exercise tolerance.  Having blood vessels blocked can lead to strokes, heart attacks, and even blood clots.  This can even cause blockage of blood vessels in the penis, causing a painful erection called priapism.

Please look out for the next part of this series on Thursday.  If you found this helpful, please do share freely with your friends and family.  Hover over the bottom right and click “Follow” to subscribe to my blog.

 

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