SICKLE CELL DISEASE: EVERYTHING YOU SHOULD KNOW

The idea of having a fore knowlege of your genotype and blood group is of great importance. One of the issues of negleting this may result to producing a sicklar. That’s having an ss genotype.

Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is referred to as sickle cell anemia.

How to diagnose sickle cell anamia

How sickle cell anemia is inherited

Sickle cell anemia is inherited as an autosomal. This means that the gene can be passed on from a parent carrying it to male and female children. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes.

The inheritance of just one sickle gene is called sickle cell trait or the “carrier” state. Sickle cell trait does not cause sickle cell anemia. Persons with sickle cell trait usually do not have many symptoms of disease and have hospitalization rates and life expectancies identical to unaffected people. When two carriers of sickle cell trait mate, their offspring have a one in four chance of having sickle cell anemia. (In some parts of Africa, one in five persons is a carrier for sickle cell trait.)

Causes of sickle cell

Sickle cell anemia is caused by a mutation in the gene that tells your body to make the red, iron-rich compound that gives blood its red color (hemoglobin). Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen.

Symptoms of sickle cell anamia

The major symptoms of sickle cell anemia are the direct result of the abnormally shaped, sickled red blood cells blocking the flow of blood that circulates through the tissues of the body. The tissues with impaired circulation suffer damage from lack of oxygen. Damage to tissues and organs of the body can cause severe disability in patients with sickle cell anemia. The patients endure episodes of intermittent “crises” of variable frequency and severity, depending on the degree of organ involvement.

The major features and symptoms of sickle cell anemia include:

  • Fatigue and Anemia
  • Pain Crises
  • Swelling and inflammation of the hands and/or feet) and Arthritis
  • Bacterial Infections
  • Splenic Sequestration (sudden pooling of blood in the spleen) and Liver Congestion
  • Lung and Heart Injury
  • Leg Ulcers

Conditions that promote the distortion of the red blood cells in sickle cell anemia

Sickling of the red blood cells in patients with sickle cell anemia results in cells of abnormal shape and diminished flexibility. The sickling is promoted by conditions which are associated with low oxygen levels, increased acidity, or low volume (dehydration) of the blood. These conditions can occur as a result of injury to the body’s tissues, dehydration, or anesthesia.

Certain organs are predisposed to lower oxygen levels or acidity, such as when blood moves slowly through the spleen, liver, or kidney. Also, organs with particularly high metabolism rates (such as the brain, muscles, and the placenta in a pregnant woman with sickle cell anemia) promote sickling by extracting more oxygen from the blood. These conditions make these organs susceptible to injury from sickle cell anemia.

How to diagnose sickle cell anamia

Sickle cell anemia is suggested when the abnormal sickle-shaped cells in the blood are identified under a microscope. Testing is typically performed on a smear of blood using a special low-oxygen preparation. This is referred to as a sickle prep. Other prep tests can also be used to detect the abnormal hemoglobin S, including solubility tests performed on tubes of blood solutions. The disease can be confirmed by specifically quantifying the types of hemoglobin present using a hemoglobin electrophoresis.

Prenatal diagnosis (before birth) of sickle cell anemia is possible using amniocentesis or chorionic villus sampling. The sample obtained is then tested for DNA analysis of the fetal cells.

The hemoglobin electrophoresis test precisely identifies the hemoglobins in the blood by separating them. The separation of the different hemoglobins is possible because of the unique electrical charges they each have on their protein surfaces, causing them each to move characteristically in an electrical field as tested in the laboratory.Some features of sickle cell anemia, such as fatigue, anemia, pain crises, and bone infarcts can occur at any age. Many features typically occur in certain age groups.

Sickle cell anemia usually first presents in the first year of life. Infants and younger children can suffer with fever, abdominal pain, pneumococcal bacterial infections, painful swellings of the hands and feet (dactylitis), and splenic sequestration. Adolescents and young adults more commonly develop leg ulcers, aseptic necrosis, and eye damage. Symptoms in adult typically are intermittent pain episodes due to injury of bone, muscle, or internal organs.

Affected infants do not develop symptoms in the first few months of life because the hemoglobin produced by the developing fetus (fetal hemoglobin) protects the red blood cells from sickling. This fetal hemoglobin is absent in the red blood cells that are produced after birth so that by 5 months of age, the sickling of the red blood cells is prominent and symptoms begin.

Treatment for Sickle cell anamia

The treatment of sickle cell anemia is directed to the individual features of the illness present. In general treatment is directed at the management and prevention of the acute manifestations as well as therapies directed toward blocking the red blood cells from stacking together. There is no single remedy to reverse the anemia. It is, therefore, important that affected individuals and their family members have an optimal understanding of the illness and that communication with the doctors and medical personnel be maintained.

References:

www.mayo clinic

www.medicinenet.com

 

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