What is Sickle Cell Disease?

Sickle cell disease is a blood disorder that is genetically inherited. It is not something that you catch as infection and is passed down by family. It gets this name as the RBCs look like a sickle when the patient has this condition. The RBC has hemoglobin which is needed to carry oxygen through the body. In a normal person, it is round and flexible. In people with this condition, the shape of hemoglobin is abnormal and hence blocks blood flow. Sickle cell disease, SCD is known by various names as hemoglobin S disease, HbS disease, SCD, Sickling disorder, and Sickle cell disorders.

Sickle Cell Disease Symptoms

People who have SCD start to show signs of this condition early in their lives, as early as the first year of birth. It usually starts to show symptoms in about 5 months of age. The symptoms include:

  • Fussiness and fatigue due to anemia
  • Swelling in hand and feet accompanied by pain
  • Developmental delays
  • Frequent infections
  • Vision problems

The SCD effects vary from person to person and also change with time and age. Preteens and teens commonly develop:

  • Eye damage
  • Aseptic necrosis
  • Leg ulcers

Symptoms in adults are injury to the internal organs, bone, or muscle along with frequent infections. Pain in the arms, legs, and chest are also common in people with SCD.

Who is at Risk?

Sickle Cell Disease risk factors are: Inheritance: The one and the only way to get this disease is to inherit it from parents. 2 defective genes are inherited by people who have SCD. Babies are more likely to be born with Sickle cell disease when two abnormal genes from both the parents who have this disease are inherited. If instead of two abnormal genes, one is normal and the other is not then they have no symptoms and may only have a trait. They can pass this on to their children and if the other parent also has this gene then the child will have this disease. Ethnic background: People of African, South America, Cuba, India, Greece, Turkey, Saudi Arabia, and Italy are at a higher risk of this disease.

Sickle Cell Disease Causes

It is a disorder that affects the RBC. These are the cells that carry oxygen from the lungs to all the parts of the body. The normal condition of the RBC is that they are smooth, round, and flexible which glide through the blood vessels. But in people with this condition, the RBC becomes the shape of the sickle and is stiff and hence gets struck inside the blood vessels. This leads to pain in the body, damage to the organs, and swelling in hands or feet. It also leads to a deficiency of RBC as unlike normal cells they die quickly and hence cause anemia.

How is Sickle Cell Disease diagnosed?

A Sickle cell disease diagnosis is vital to understand the treatment involved.  They are:

  • A blood test to check if the hemoglobin present is a defective type. This test is done on newborns or even older children and is part of the routine test. If SCD is detected then further tests have to be conducted.
  • A Sickle Cell Disease test called Sickledex test is done by taking a blood sample and checking if the RBC becomes sickle cell shaped.
  • Hemoglobin electrophoresis is done to determine SCD and sickle cell trait.
  • Ultrasound is performed on the person having SCD to determine if there is a risk of stroke.
  • In the case of a pregnant woman having this disease or a partner having this disease, an amniotic fluid check is done. This will tell if the unborn child has this condition.

How is Sickle Cell Disease Treated?

Sickle Cell Disease treatment usually involves providing relief from symptoms. It includes avoiding pain and preventing complications. Sickle Cell Disease cure includes:

  • Reducing the incidents of pain crises, infections, and even anemia through medicine for Sickle Cell Disease
  • Pain relievers to reduce the symptoms of swelling and pain.
  • Immunizations for people with low immunity helps prevent infections.
  • Blood transfusions to inject healthy RBCs in case the condition worsens.
  • Providing oxygen supply through a mask which helps to increase oxygen levels.
  • Stem cell transplants are also a possible cure for this disease for children.

Contact our expert pediatricians at Cure.fit, if your child has this disease. They can help in managing the symptoms and aid in leading a better quality of life. Our specialists are now available via online consultations too!

How can Sickle Cell Disease be Prevented?

There are various types of Sickle Cell Disease, but the symptoms of each of them can be prevented by ensuring that the RBC remains round in shape. Some of the measures for Sickle cell disease prevention are:

  • Avoid places where there are low oxygen levels. For example, high altitude places, places where there is a lot of pollution, etc.
  • Avoid places where there are extreme weather conditions
  • Avoid strenuous exercise
  • Taking enough rest between exercise
  • Drinking plenty of water and staying hydrated
  • Taking medicines prescribed by the doctor and being regularly monitored by your doctor.

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