Sickle Cell Disease is a disease in which a mutation in the patient's Hemoglobin-Beta gene causes production of unhealthy Hemoglobin. Hemoglobin are tiny structures located inside of red blood cells. They play a very important role in the human body, as they carry oxygen from the lungs to everywhere else in the body. However, if a disease like Sickle Cell disease produces unhealthy hemoglobin, they can stick together in long chains inside the red blood cell, distorting its shape from a doughnut-like shape to that of a crescent (or sickle).
Hemoglobin, carrying out its job.
Okay, cool. But how was it discovered in the first place?
Well, person by the name of Walter Noel, a dental student, went to Dr. James B. Herrick in 1910 with symptoms of pain and anemia. Upon the inspection of Walter’s blood, Dr. Herrick noticed a unique sickle shape in Walter's blood cells.
Hmm, interesting. How's the incidence rate in the U.S.?
Currently, somewhere around 100, 000 Americans are afflicted with the disease.
But are any specific populations of people afflicted with this disease than others?
It’s more common with people of African descent, or people who come from Central or South America; About one out of 375-500 African Americans are affected by the disease, and somewhere around one in 100 Hispanic Americans are affected by this disease.
What are the symptoms of Sickle Cell disease?
Some symptoms include shortness of breath, paleness of skin, and swelling of the hands and feet; sickle cells can congregate and clog blood vessels, which could cause a stroke if the blood vessels that are blocked lead to the brain.
Oh no! Blood vessel blockage!
Well, that doesn't sound very good. How's it diagnosed?
It is diagnosed very early in a person’s life; usually while they’re a baby. A blood sample is taken, and doctors look for sickle-shaped red blood cells as opposed to torus-like ones.
Phew! So I don't have it. How is this affliction treated?
It can be treated by blood transfusion, certain medications, or just by drinking a lot of fluids, as dehydration can inflate the pain of sickle-cell anemia.
So, what's the prognosis for a patient that has this disease?
The patient could possibly, if untreated, die during their first year of living; if the patient is treated very well, however, the patient could live for 50 years or more.
So it sounds like they've got the treatment locked down. Can it be inherited?
Yes! In fact, it is an autosomal, recessive condition; that means that there must be two copies of a mutated gene present in somebody for it to develop in them.
I want to know more! What current research is being conducted on this disease?
Current studies are looking into Sickle Cell Disease’s symptoms, how it can arise from certain symptoms, more ways in which it can be treated, looking at how the disease affects families, and how families respond to it so that these poor families can be helped.