Why screen for sickle cell disease?

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1. What is sickle cell disease?

Sickle cell disease is an inherited blood disorder. Patients with this disease often have abnormally deformed red blood cells that look like a sickle and become stiffer, causing the cells to become trapped as they circulate throughout the body. When suffering from this condition, patients will be at high risk of facing recurrent pain, infections, lung complications and a number of other serious health problems.

2. What are sickle cell characteristics?

Sickle cell trait (SCT) is not the same as sickle cell disease. If you are a carrier of sickle cell trait. You will not notice any unusual symptoms. However, when you have a baby and your partner also has sickle cell trait, your baby has a 1 in 4 chance of having sickle cell disease.

According to research, 1 in 13 African-Americans will have sickle cell trait. In addition, this gene is also common in people with ancestry from regions, including South America, Central America, the Caribbean, Saudi Arabia, India, and Mediterranean countries such as Greece and Turkey Ky and Italy.
It is a fact that most people who carry the sickle cell gene don't know they have the abnormal trait. A 2016 study found that most young African-Americans were unaware of their sickle cell status.
Usually, it will be difficult for parents to find out they are carrying sickle cell trait until their child is diagnosed with sickle cell disease. Therefore, screening for the risk of sickle cell disease is an extremely important step in preventing children from being born with the disease.

3. Common symptoms of sickle cell disease

When sickle cell disease, patients often have the following specific symptoms:
Fast heartbeat Fatigue Body Chronic Anemia Chronic jaundice Jaundice in children Swelling in hands and feet due to blockage of blood vessels blood in the body Severe pain in areas such as the abdomen, chest, bones, or joints; usually lasts from a few hours to several weeks.

Although sickle cell disease is a congenital disease, its symptoms only begin to appear when the baby is more than 4 months old.
When sickle cell disease is not prevented and treated early, it can cause dangerous complications to your health, such as gangrene of the legs, kidney or eye problems, infections. cause pneumonia or osteomyelitis, stroke. In severe cases, the disease can affect key bone marrow functions, leading to a halt in red blood cell production, causing an alarming shortage of red blood cells.
If your child has abnormal signs related to sickle cell disease, parents should closely monitor and immediately notify the doctor for timely handling. Some signs that you need to take your child to the hospital right away include:
Swelling in the abdomen, and the child feels pain to the touch Swelling in the hands and feet Pale skin A lot of severe pain without for unknown reasons, such as pain in the chest, abdomen, joints or bones High fever – the first sign of an infection Jaundice and yellowing of the eyes Signs of a stroke, including paralysis on one side of the body, or weakness in the arms, legs and face, sometimes confusion, sudden decrease or loss of vision

4. What causes sickle cell disease?

The main cause of sickle cell disease probably stems from a mutation in the gene that makes up hemoglobin. This is a compound that is very rich in iron and determines the red color of the blood. In general, hemoglobin plays an extremely important role, they help red blood cells transport oxygen from the lungs to nourish all of the body's vital organs. Once you have sickle cell disease, the abnormal hemoglobin deforms red blood cells and makes them stiffer and more sticky, blocking blood vessels in the body.

On the other hand, these sickle cell genes are inherited from one generation to the next. If both parents carry sickle cell trait, the child will be born with:
25% at birth without disease 50% at birth with recessive factor and no symptoms of the disease 25% are born with sickle cell disease

5. Importance of Sickle Cell Disease Screening

Carrier screening can check for you and your partner for sickle cell traits along with mutations in genes for some other serious genetic disorders like cystic fibrosis and Tay's disease -Sachs or not.
Ideally, to avoid the risk of your baby being born with sickle cell disease, you should learn carefully about your condition before becoming pregnant. Even if you get screened while you're pregnant, the test results can still give you time to talk to a genetic counselor about the possibility that your baby has a genetic disorder, or about ordering additional testing.

6. How to prevent the progression of sickle cell disease

You can completely prevent and effectively control sickle cell disease for you and your children through the following notes:
Regular water replenishment for the body to prevent dehydration Eat a healthy, balanced diet that includes plenty of green vegetables and foods rich in folate. Vaccinations according to medical recommendations Exercise regularly every day to increase resistance When flying, choose a pressurized cabin. Absolutely do not abuse pain relievers, especially when there is no directed by Doctor. In addition, you should not change your medication on your own, but talk to your doctor. Limiting the use of stimulants or narcotics to relieve pain Vinmec International General Hospital is a high-quality medical facility in Vietnam with a team of highly qualified, well-trained doctors and nurses. copy, specialize in domestic and foreign, rich in experience.
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Reference source: babycenter.com