Sickle cell anemia What we need to know

Sickle cell anemia is an inherited disease in which the red blood cells have a sickle (crescent) shape and their rapid destruction leads to chronic anemia. Sickle cell anemia (SCD) is a group of inherited red blood cell disorders. Red blood cells contain hemoglobin, an oxygen-carrying protein.

Healthy red blood cells are round and travel through small blood vessels, delivering oxygen to all parts of the body. A person with sickle cell anemia has too much hemoglobin, causing the red blood cells to become hard, sticky, and change shape, resembling a "sickle" C-shaped tool.

Sickle-shaped cells are weak and break easily, are less elastic and therefore difficult to move through the narrowest blood vessels, which impedes blood flow, reducing oxygen supply to tissues. This causes pain, over time damage to the spleen, kidneys, brain, bones and other organs; Kidney or heart failure may develop.

Etiology

Sickle cell anemia is a genetic disorder that is present at birth. It is inherited when a child receives two genes—one from each parent—that code for hemoglobin.

Symptoms

It is necessary to consult a doctor if the following symptoms are observed:

• stomach-ache;
• chest pain
• bone or joint pain;
• swelling in the hands and feet;
• Abdominal distention, especially with pain;
• the heat

Complications

• acute chest syndrome;
• Anemia;
• avascular necrosis (bone death);
• blood clotting;
• dactylitis (hand and foot syndrome);
• Fever;
• infection;
• kidney problems;
• leg ulcers;
• liver problems;
• priapism;
• pulmonary hypertension (high pressure in the lungs);
• heavy breathing during sleep;
• Spleen sequestration;
• stroke
• loss of sight.

Diagnosis

Screening: Relatives of people with the disease are given a blood test because they may also have sickle cell disease or be carriers of the gene. This last condition is important for family planning: the probability of having a child with the disease is determined. All newborns are screened through a blood test. There are also newer studies, with the help of which safe testing can be done in the early stages of pregnancy (Veragen (100 monogenic diseases)) methods determine whether the fetus has mutated genes. Also, if there is a risk of transmitting the disease to the child, couples can consult a specialist before the birth and manage the pregnancy properly.

screening tests - A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening. If screening tests show that you have a high risk of having a baby with sickle cell disease, you may also want to have a diagnostic test to determine if the fetus has the genetic disorder.

Diagnostic tests - After the screening test, the final answer is given by the diagnostic test, which checks the genetic material of the fetus and therefore can also find out whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasity, Veragen) are the only, safe and effective way to confirm the diagnostics.

Be aware that some prenatal diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

Prevention

A visit to a geneticist before trying to conceive can help you understand your risk of having a child with sickle cell disease. Consultation with a geneticist will also help you to get the right treatment or take preventive measures in time.

Geneticist consultation → (https://synevo.ge/product/genetikosis-konsultacia/)

Treatment

In the case of sickle cell anemia, the patient may need to be hospitalized; Intravenous transfusions are given, painkillers are given. If severe anemia is suspected, which increases the likelihood of stroke, heart attack, or lung damage, blood transfusions and oxygen may be needed. They also treat the disorders that caused the crisis.

Drug therapy is used to correct anemia. Hydroxyurea promotes the formation of the form of hemoglobin found mainly in the fetus and reduces the number of sickle-shaped erythrocytes. Accordingly, the frequency of crises also decreases.

The patient may receive a bone marrow or stem cell transplant from a family member or another donor who does not have the sickle cell gene. In this way, the patient may even be cured, but the procedure is still risky; The recipient must take immunosuppressive drugs for the rest of his life.

Source:

• https://www.cdc.gov/ncbddd/sicklecell/facts.html
• https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876

Alexander Tsintsabadze