Genetic and rare disease

Sickle cell disease (SCD)

subdivision of sickle cell diseases

  1. sickle cell anemia
  2. sickle cell hemoglobin C disease
  3. sickle cell thalassemia disease

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Summary :

Sickle cell disease (SCD) is a rare blood disorder that is inherited in an autosomal recessive manner. It is the presence of sickle shape RBC in the bloodstream. These crescent-shaped cells are rigid and sticky which interact with other cells and also with the blood clotting system to block the blood flow of the in the blood vessels of the peripheral nervous system. This prevents the smooth normal flow of the oxygen and nutrients in the body.

The sickle shape isn’t flexible enough to move easily throughout and it cannot change its shape easily. These sickle-shaped RBC bursts during the movement of blood vessels. The sickle cells usually last for 10 to 20 days, instead of the normal 90-120 days lifespan. Due to this, your body may have enough troubles while making the new cells or by recovering the loss of cells.

The sickle-shaped cells can also stick towards the cell walls. This will cause the blockade of the flow of the blood due to which, oxygen will not be able to reach the nearby tissues. Lack of oxygen will cause several sudden attacks and severe pain. These sudden attacks many occur unknowingly and can lead to death immediately.

Symptoms and Signs :


  • Hemoglobin is an iron-rich protein contained in the erythrocytes and is responsible for carrying oxygen from the lungs to the rest of the body. The sickled-shaped cell does not provide enough surface areas for the hemoglobin and oxygen which leads to abnormal hemoglobin in the red blood cells. This abnormal hemoglobin triggers a series of events leading to fragile RBC and blocking its flow.
  • People with inherited SCB cells face the symptoms in the starting of their life, around from 5 months of age. Symptoms like painful swelling on hands and legs, fussiness from anemia and having yellowish skin color (jaundice) and whites of the eyes (icterus)
  • Anemia is a common symptom of SCD, it is a condition in which you don’t have enough healthy red blood cells to carry adequate oxygen to the body’s tissues. Having anemia may make you feel tired and weak. There are many forms of anemia, each with its own cause. Anemia can be temporary or long term, and it can range from mild to severe.




All newborns born are tested for SCD by electrophoresis and or high-pressure liquid chromatography. Molecular genetic testing for mutations in the HBB gene is also available. The diagnosis can also take place when the baby is in the womb of the mother that test uses a sample of amniotic fluid, (the liquid in the pouch surrounding the baby) or tissue is taken from the placenta (the organ that brings oxygen and nutrients to the baby).


  • Prevention is the best treatment. Patient and family education, medicines such as hydroxycarbamide, avoiding triggers, early intervention, and testing to pick up developing complications early so they can be treated before they are severe can improve the futhure complications.
  • Many simple lifestyle activities can be done to support health and minimize pain and other complications. These include remaining hydrated, not getting too hot or cold, getting exercise, deep breathing, not getting fatigued and avoiding trauma.
  • Distraction can be a huge help, as are approaches such as massage, acupuncture, and hypnosis. Pain-relieving medications, such as non-steroidal anti-inflammatory agents and opiate analgesics may be administered during painful episodes.
  • Blood transfusions can be used for many reasons such as very severe anemia, preparing for surgery, and to reduce the risk of, or treat stroke
  • Stem cell transplant can provide a cure for patients but the chance of success and potential risks vary depending on many factors.


Impacts :

  1. Economic

As healthcare costs continue to be viewed, a more conscious effort will need to be placed on delivering high-quality cost-effective care to our sickle cell population. From this analysis, there is a clear economic burden of sickle cell-related hospitalizations to community hospitals.Also the country, such as USA needs to be pay more on the cure of sickle cell anemia for the growth of their country.

Other organizations :

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