Sickle Cell Anemia- This is where red blood cells don’t form properly. Instead of being a healthy round shape, they are like a shriveled up half moon. This results in lack of blood flow. Thus, there is a lack of oxygen in the body.
This gene mutation happens in HBB and affects the protein that this gene is responsible for making. This protein is Hemoglobin Subunit Beta.
healthy blood cell vs. sickle red blood cell
Discovery- Regarding medical journals, Sickle Cell Anemia, often abbreviated SCD, was discovered in 1910. Two patients visited a cardiologist named Dr. James B. Herrick with symptoms of anemia. Uninterested, Herrick referred these patients to Dr. Ernest Irons who discovered the sickle cell shape of the red bloods cells in the two patients. Now interested again, Dr. Herrick published a paper on the findings, but regarding tribal history, SCD has been known in African tribes for over 5,000 years. Similar symptoms in tribal members matchup with known symptoms today of the disease.
Incidence rate: US- 1 in 1000 people ; World- 1 in 10000
Races more affected: Anyone of African descent has much higher chances of getting SCD. 1 out of 365 African-American babies are born with the disease. It started as a resistance to Malaria in African tribes.
Symptoms: Sickle Cell Anemia branches off from just normal anemia in many ways. Like patients with anemia, SCD patients also experience fatigue but also endure episodes of pain, hands and feet that swell, infections, abnormal growth patterns, and vision problems. Since there is a lack of oxygen in SCD patients, they will most likely their experience episodic pain in their bones, abdomen, joints, and chest.
A simple blood test to check for the mutated hemoglobin, hemoglobin S, can get many who suffer this disease diagnosed very early in their lifetime, and in the United States, the mandatory blood test can diagnose this at birth. Also, new advances in medicine allow for testing before the birth of the baby. By taking a sample of the baby’s amniotic fluid, SCD can be diagnosed before the child is even born.
One treatment is to have a blood transfusion. Since this is not a cure, medications and supplements could be given to a patient to help manage symptoms. Like always, science is always changing and coming up with new cutting edge cures for diseases. Other experimental treatments include: a drug to increase hemoglobin in a fetus, gene therapy, and inhalation of nitric oxide. One of the best treatments, though, is hydroxyurea.
Prognosis: While women are usually living longer, the lifespan has reached over 50 years with new advances in the disease. Though, life is shortened and very painful at times due to lack of oxygen in the body. Also, you have to be very careful of complications like infection.
Sickle cell anemia is an autosomal recessive pattern
Research: Like I said earlier, bone marrow transplants seem to be the most researched cure for SCD. The stages are very early. Also, other research claims arginine supplements might increase nitric oxide in SCD patients potentially being a drug treatment. Other trials include stem cell research. Overall, many organizations work very hard to find a cure. NHLBI has spent over 1 billion dollars working towards a cure.
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