How is it inherited and what happens in the blood
The disease develops when a child receives the altered gene from both parents. If the gene comes from only one person, the person is a carrier: they are usually healthy, and the condition is called sickle cell trait. Carrier status has historically been more common in regions where malaria was common, as it provided partial protection against it. In a sick person, when there is a lack of oxygen, dehydration, cooling or infection, hemoglobin S crystallizes, red blood cells become deformed, lose flexibility and get stuck in the capillaries. The tissues below the blockage suffer from a lack of oxygen, which causes pain.
- Two altered genes are required for the disease to develop
- Carriers are usually healthy
- Hemoglobin S crystallizes when there is a lack of oxygen
- Red blood cells lose flexibility and clog blood vessels
- Blood cells live much shorter than usual
Pain crises
Crisis is the most characteristic manifestation of the disease. The pain occurs suddenly, usually in the bones of the arms and legs, back, chest or abdomen, is very severe and can last from several hours to several days. Painful swelling of the hands and feet is typical in young children. Crises are provoked by dehydration, hypothermia, infections, stress, intense physical activity, climbing to altitude and flying. Many patients recognize their triggers over time. At home, you can take painkillers prescribed by your doctor, provide warmth and plenty of fluids, but if you have severe pain and fever, you need medical attention.
- Sudden severe pain in bones, back, abdomen
- Swelling of the hands and feet in young children
- Causes dehydration and hypothermia
- Infections and stress as trigger factors
- Drinking plenty of fluids and warmth relieves the condition
- For fever and severe pain, see a doctor
Complications that are important to know about
Blockage of blood vessels and constant destruction of red blood cells gradually damage organs. The spleen is one of the first to suffer and ceases to protect against bacteria, so children are especially vulnerable to severe infections - any fever in them is considered an emergency. Dangerous are acute chest syndrome with chest pain and shortness of breath, stroke, prolonged painful erection, damage to the kidneys, retina, hip joints, the formation of gallstones and non-healing leg ulcers. The good news is that many complications can be prevented with regular monitoring and prevention.
- Severe bacterial infections
- Acute chest syndrome
- Stroke, including in children
- Priapism - prolonged painful erection
- Kidney and retinal damage
- Necrosis of the femoral head
- Gallstones and leg ulcers
Diagnostics
In countries with widespread carriage, the disease is detected during examination of newborns. In other cases, the diagnosis is made based on a combination of data: a clinical blood test shows anemia and altered red blood cells, increased reticulocytes and indirect bilirubin due to cell breakdown. The diagnosis is confirmed by a special hemoglobin test, detecting hemoglobin S, and genetic analysis. Next, an examination of the organs is carried out: an ultrasound of the abdominal cavity to evaluate the spleen and gall bladder, an examination of the fundus, and kidney function tests. Children regularly undergo transcranial Doppler ultrasound to assess the risk of stroke.
- Clinical blood test
- Reticulocytes and bilirubin
- Study of hemoglobin types
- Genetic confirmation
- Abdominal ultrasound
- Transcranial Dopplerography in children
- Fundus examination and renal function monitoring
Treatment and prevention
Treatment is aimed at reducing the frequency of crises and protecting organs. The basis is the regimen: sufficient drinking, avoiding hypothermia and overheating, moderate exercise, quitting smoking, timely treatment of infections. Children are prescribed antibiotic prophylaxis and a full range of vaccinations, including protection against pneumococcus and meningococcus, as well as daily folic acid. The doctor can prescribe drugs that increase the proportion of fetal hemoglobin and significantly reduce the frequency of crises. In severe cases, transfusion programs are used, and the only method of cure remains bone marrow transplantation, which is considered in some cases. All appointments are made by a hematologist.
- Drink plenty of fluids and protect against hypothermia
- Full vaccination schedule, including pneumococcal
- Antibiotic prophylaxis in children as prescribed
- Taking folic acid daily
- Drugs that reduce the frequency of crises
- Transfusion programs for severe cases
- Bone marrow transplantation in selected cases
- Family genetic counseling