Sickle cell disease is a group of disorder that affects hemoglobin that is present in red blood cell ,which function is to transport oxygen to cells throughout the body.

Usually the red blood cell is of “round shape” but the distorted red blood cell is of “sickle or crescent shape”.

Signs and symptoms of sickle cell usually begin in early childhood.Charaacteristic features of this disorder includes a low number of red blood cells (anemia).



  • Fatigue and Anemia.
  • Pain Crises.
  • Dactyltis (swelling and inflammation of the hands or feet)
  • Headache.
  • Splenic sequestration and Liver congestion .
  • Lungs and Heart injury.
  • Leg Ulcers.



Sickle cell disease is an inherited disease. That means you can’t catch it from other people like you can catch a cold or the flu. Kids are born with the disease when both parents pass along the sickle cell gene to their children. It is caused by a genetic mutation. Genes are found on structures in the cells of our body called “chromosomes.” There are normally 46 total, or 23 pairs, of chromosomes in each cell of our body. The 11th pair of chromosomes contains a gene responsible for normal hemoglobin production. And mutation in 11th pair chromosome causes sickle cell.


  • Bone marrow transplants can cure sickle cell disease .Transplants are not appropriate for every patient. It is used primarily in young patients who have severe sickle cell disease. Bone marrow used for a transplant must come from a closely matched donor. This is usually a close family member who doesn’t have sickle cell disease.
  • Gene Therapy can also be used to treatment sickle cell disease. Researchers want to know whether a normal gene can be put in the bone marrow of a person who has sickle cell disease. This would cause the body to make normal red blood cells
  • Medication can also be used for treatment of sickle cell.The medicines includes antibiotics such as penicillin ,pain relieving medicines in case of severe pain during disease , Hydroxyurea


A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening done at the hospital. But older children and adults can be tested, too.

In adults, a blood sample is drawn from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample is then sent to a laboratory, where it’s screened for hemoglobin S.

If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present.


People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested.

Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD) may want to meet with a genetics counselor. A genetics counselor can answer questions about the risk and explain the choices that are available. 

  1. Reported by Dr Ayesha Syed