Sickle Cell Disease – Conditions

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Sickle cell disease abbreviated as SCD is the term given to a set of hereditary red blood cell diseases that are linked to the immune system. Red blood cells are spherical in shape and travel through tiny blood arteries to provide oxygen to every part of the body, including the brain, in normal health. SCD sufferers’ red blood cells harden and become sticky, taking on the form of a C, which is referred to as a “sickle.” The patient’s circulation is continuously depleted of red blood cells. Furthermore, as they travel through tiny blood arteries, they get entangled and block the flow of blood through the channel. Pain and other severe consequences, such as acute chest syndrome, infection, and stroke, may occur as a result of this.

Below are some of the types of this disease:

HbSS: Individuals with this kind of SCD receive two sickle cell genes from each parent, resulting in the formation of two sickle cells. This condition is medically referred to as sickle cell anaemia, and it is often the most severe form of the illness.

HbSc: Individuals with this type of SCD inherit one parent’s sickle cell gene and the other parent’s haemoglobin gene (C).

HbS beta thalassemia: This type of sickle cell disease is caused by one parent receiving one sickle cell gene and the other parent inheriting one beta thalassemia gene from their respective parents.


Sickle cell disease is a hereditary illness that is caused by a genetic abnormality or mutations.

A person will only be born with sickle cell disease if two genes are acquired from both parents: one from the mother and one from the father.

An individual who receives just one gene for a disease is considered to be “healthy” and is referred to as a “carrier” of the illness. In the case of carriers, the likelihood of having a kid with sickle cell disease is enhanced if the carrier has a child with another carrier.

Sickle cell illness affects one out of every four people who have sickle cell disease, which means that one out of every four people has sickle cell disease.

Having a family history of SCD raises your chances of contracting the illness yourself. In the US, African Americans are disproportionately affected.


SCD is characterized by a variety of symptoms and consequences, which are listed below. Individuals, on the other hand, may experience symptoms in a variety of ways. The following symptoms and consequences may occur:

Sickle cell anemia trait: Because sickled cells survive for a short period of time or are eliminated, the body has a limited supply of red blood cells. As a result, an individual develops anemia. A severe case of anemia may cause you to feel dizzy, out of breath, and exhausted.

Sickle crisis: An instance of pain crisis happens when the flow of blood into a region is obstructed due to the sickled cells being lodged inside a blood artery. The pain may occur everywhere on the body, although it is most often felt in the chest, arms, and legs. Children as young as six months old may experience severe swelling of the fingers and toes. Tissue death may also occur as a result of an interruption in blood flow.

Acute chest syndrome: This condition is a direct consequence of a sickling developing in the chest. . Acute chest syndrome has the potential to be life threatening. It develops quickly when the body is under stress due to illness, fever, or dehydration. As a result, the sickled cells adhere to one another and prevent oxygen from flowing through the small capillaries of the lungs. It has symptoms that are similar to pneumonia, including fever, discomfort, and a severe cough.

Jaundice: Sickle disease is characterized by the presence of jaundice as a sign and symptom. Silent red blood cells, on the other hand, do not have the same lifespan as regular red blood cells, therefore they are dying at a quicker rate than the liver can filter them out. The bilirubin (which is responsible for the yellow hue) produced by these broken down cells accumulates in the system, resulting in jaundice.


Physical examination as well as medical history aid in the diagnosis of SCD. In addition to a thorough review of medical history and physical examination, you may be subjected to blood and other testing.

Many jurisdictions test infants for sickle cell disease on a regular basis to ensure that treatment may begin as soon as feasible. Early detection and treatment may help to minimize the likelihood of problems.

It is possible to tell whether someone is a sickle cell carrier or if they have any of the illnesses linked with the sickle cell gene via the use of hemoglobin electrophoresis, which is a blood test for sickle cell anemia. Sickle cell anemia test is used to evaluate the existence and relative quantity of haemoglobin S in a blood sample, as well as to identify genetic mutations.


In the treatment of sickle cell disease, it is essential to diagnose the illness early to avoid problems from developing. The goal of treatment is to avoid organ damage, such as strokes, as well as to prevent infections, and cure symptoms.

A blood transfusion may be recommended by your doctor to treat or prevent certain sickle cell disease consequences, such as anemia.

SCD is treated entirely via regenerative medicine.

Bone marrow transplant is considered the only cure of SCD. Marrow is a soft, fatty material found inside the bones that is responsible for the production of blood cells. A bone marrow or stem cell transplant is a surgical procedure that involves the removal of healthy blood-forming cells from one person and transplanting them into the bone marrow of another.

Transplantation of bone marrow or stem cells is dangerous and may result in death. The bone marrow must be functionally compatible. Typically, a sibling is the preferred donor. Bone marrow or stem cell transplantation is reserved for infants with severe SCD who have little organ damage.

When to see a doctor

If you develop anemic symptoms as a result of a splenic sequestration crisis or an aplastic crisis, you should visit the doctor or go to the hospital immediately. These diseases may be life-threatening, and the individual will need close observation and treatment in a hospital setting. In most cases, a person will also need a blood transfusion.