Falcemia: Causes, Symptoms, Types, Complications, Diagnosis, Treatment and Prediction

Also known as sickle cell anemia or sickle cell disease, it is a genetic disease of red blood cells.

Normally, red blood cells are disc-shaped, which gives them the flexibility to travel even through the smallest blood vessels. However, with this disease, the red blood cells have an abnormal crescent shape that resembles a sickle.

Falcemia is an autosomal recessive condition. You need two copies of the gene to have the disease. If you only have one copy of the gene, it is said to have the sickle cell trait.

Causes of falcemia

Falcemia is the result of the mutation, or change, of certain types of hemoglobin chains in red blood cells (the beta chains of hemoglobin).

Changes in the construction of normal hemoglobin result in the abnormal hemoglobinof sickle cell disease. These mutated molecules do not have the smooth movement necessary for oxygenation and deoxygenation.

When the concentration of oxygen in the blood is reduced, the red blood cell assumes the characteristic sickle shape. This makes red blood cells stiff and rigid, and stops the smooth passage of red blood cells through the narrow blood vessels.

It does not take much imagination to see “hard” red cells with a sharp tip that accumulate in narrow blood vessels known as capillaries. When this happens, red blood cells can not carry oxygen to the tissues and injury or death occurs in the cells of the tissue. Someone with sickle cell anemia would experience pain with this process: the sickle cell crisis .


The symptoms of sickle cell disease usually appear at an early age. They can appear in babies from 4 months, but usually appear around 6 months.

While there are several types of MSCs, they all have similar symptoms, which vary in severity. These include:

  • Excessive fatigue or irritability, due to anemia.
  • Irritability in babies.
  • Enuresis , due to associated kidney problems.
  • Jaundice , which is the yellowish color of the eyes and skin.
  • Swelling and pain in the hands and feet.
  • Frequent infections
  • Pain in the chest, back, arms or legs.

Tipos de falcemia

Hemoglobin is the protein in red blood cells that carries oxygen. Normally it has two alpha chains and two beta chains. The four main types of falcemia are caused by different mutations in these genes.

Disease of hemoglobin SS

Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the S gene from the hemoglobin of both parents. This forms the hemoglobin known as Hb SS. As the most severe form of falcemia, people with this form also experience the worst symptoms at a greater rate.

SC hemoglobin disease

Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. People with Hb SC have symptoms similar to those with Hb SS. However, anemia is less severe.

Hemoglobina SB + (beta) talasemia

Hemoglobin SB + (beta) thalassemia affects the production of the beta globin gene. The size of red blood cells is reduced because less beta protein is produced. If it is inherited with the Hb S gene, it will have hemoglobin S beta thalassemia. The symptoms are not so severe.

Hemoglobina SB 0 (Beta-zero) talasemia

Beta-cero falciform thalassemia is the fourth type of sickle cell disease. It also involves the beta globin gene. It has symptoms similar to Hb SS anemia. However, sometimes the symptoms of beta thalassemia zero are more severe. It is associated with a worse prognosis.

Hemoglobina SD, hemoglobina SE y hemoglobina SO

These types of sickle cell disease are more rare and usually do not have serious symptoms.

Risk factors of falcemia

Children are only at risk for sickle cell disease if both parents have the sickle cell trait. A blood test called hemoglobin electrophoresis can also determine what type it can carry.

People in regions that have endemic malaria are more likely to be carriers. This includes people from:

  • Africa
  • India
  • The Mediterranean
  • Saudi Arabia


Falcemia can cause serious complications, which appear when sickle cells block vessels in different areas of the body. Painful or harmful blockages are called sickle cell crises. They can be caused by a variety of circumstances, including:

  • Discomfort.
  • Changes in temperature
  • Stress .
  • Bad hydration
  • Altitude.

The following are types of complications that can result from sickle cell disease:

Severe anemia

Anemia is a shortage of red blood cells. Sickle cells break easily. This separation of red blood cells is called chronic hemolysis. Red blood cells usually live about 120 days. Sickle cells live for a maximum of 10 to 20 days.

Hand-foot syndrome

Hand-foot syndrome occurs when sickle-shaped red blood cells block blood vessels in the hands or feet. This causes the hands and feet to swell. It can also cause ulcers in the legs. Swollen hands and feet are often the first sign of sickle cell anemia in babies.

Splenic abduction

Splenic sequestration is a blockage of splenic vessels by sickle cells. It causes a sudden and painful enlargement of the spleen.

The spleen may have to be removed due to complications of sickle cell disease in an operation known as splenectomy. Some patients with sickle cells will suffer enough damage to the spleen that it will shrink and stop working.

This is called autosplenectomy. Patients without a spleen have an increased risk of infections with bacteria such as Streptococcus, Haemophilus and Salmonella species.

Stunted growth

Stunting occurs often in people with SCD. Children are generally lower, but they regain their height as adults. Sexual maturation can also be delayed. This happens because the red blood cells of sickle cells can not supply enough oxygen and nutrients.

Neurological complications

Seizures, strokes, or even coma can be the result of sickle cell disease. They are caused by brain blocks. You should seek immediate treatment.

Eye problems

Blindness is caused by obstructions in the vessels that irrigate the eyes. This can damage the retina.

Ulcers on the skin

Skin ulcers on the legs can occur if small vessels are blocked.

Heart disease and chest syndrome

Because SCD interferes with the supply of oxygen in the blood, it can also cause heart problems that can lead to heart attacks, heart failure, and abnormal heart rhythms.

Lung disease

Damage to the lungs over time related to decreased blood flow can cause high blood pressure in the lungs ( pulmonary hypertension ) and scarring of the lungs (pulmonary fibrosis).

These problems may occur earlier in patients with sickle cell syndrome. Lung damage makes it more difficult for the lungs to transfer oxygen to the blood, which can lead to more frequent sickle cell crises.


Priapism is a persistent and painful erection that can be seen in some men with sickle cell disease. This happens when the blood vessels in the penis are blocked. It can lead to impotence if it is not treated.


Gallstones are a complication not caused by a blockage of the vessel. Instead, they are caused by the decomposition of the RBCs. A by-product of this decomposition is bilirubin. High levels of bilirubin can lead to gallstones. These are also called pigment stones.

Sickle-cell syndrome

Sickle cell syndrome is a serious type of sickle cell crisis. It causes severe pain in the chest and is associated with symptoms such as cough, fever, sputum production, difficulty breathing and low levels of oxygen in the blood.

Abnormalities seen on chest radiographs may represent pneumonia or lung tissue death (pulmonary infarction). The long-term prognosis for patients who have had sickle cell syndrome is worse than for those who have not had it.

Diagnosis of falcemia

All newborns in the United States are evaluated for sickle cell disease. The prenatal test looks for the sickle cell gene in its amniotic fluid.

In children and adults, one or more of the following procedures can also be used to diagnose sickle cell disease.

Detailed history of the patient

This condition often appears first as acute pain in the hands and feet. Patients can also have:

  • Severe pain in the bones.
  • Anemia.
  • Painful enlargement of the spleen
  • Growing problems.
  • Respiratory infections.
  • Ulcers of the legs.
  • Heart problems.

Your doctor may want to do a sickle cell anemia test if you have any of the symptoms listed above.

Blood test

Several blood tests can be used to diagnose falcemia:

  • Blood counts may reveal an abnormal Hb level in the range of 6 to 8 grams per deciliter.
  • Blood films can show red blood cells that appear as irregularly contracted cells.
  • Sickle solubility tests look for the presence of Hb S.
  • Hb electrophoresis: is necessary to confirm the diagnosis of sickle cell disease. It measures the different types of hemoglobin in the blood.


There are several different treatments available for falcemia:

  • Rehydration with intravenous fluids helps red blood cells return to a normal state. Red blood cells are more likely to deform and take the sickle shape if you are dehydrated.
  • The treatment of underlying or associated infections is an important part of crisis management, since the stress of an infection can cause a sickle cell crisis . An infection can also result as a complication of a crisis.
  • Blood transfusions improve the transport of oxygen and nutrients as needed. The packed red blood cells are removed from donated blood and administered to patients.
  • Supplemental oxygen is administered through a mask. It makes breathing easier and improves oxygen levels in the blood.
  • Pain medication is used to relieve pain during a sickle crisis. You may need over-the-counter medications or strong prescription pain medications such as morphine.
  • Hydroxyurea: helps increase the production of fetal hemoglobin. It can reduce the number of blood transfusions.
  • Vaccines can help prevent infections. Patients tend to have less immunity.

Bone marrow transplantation has been used to treat sickle cell anemia. Children under 16 who have serious complications and have a compatible donor are the best candidates.

Home care

There are things you can do at home to help your sickle cell symptoms:

  • Use thermal pads to relieve pain.
  • Take folic acid supplements, as recommended by your doctor.
  • Eat an adequate amount of fruits, vegetables and whole wheat grains.
  • Doing so can help your body make more red blood cells.
  • Drink more water to reduce the chances of sickle cell crisis.
  • Exercise regularly and reduce stress to reduce crises, too.
  • Contact your doctor immediately if you think you have any type of infection. Early treatment of an infection can prevent a full-blown crisis.
  • Support groups can also help you deal with this condition.

When to call the doctor?

Call or other emergency services immediately if you have sickle cell disease and one or more of the following symptoms are present:

  • Difficulty breathing.
  • Chest pain.
  • Severe abdominal pain.
  • Sudden weakness
  • Sudden numbness or tingling in the hands, feet, fingers or feet (even if it goes away on its own).
  • Sudden poor balance and poor coordination when walking (even if it goes away on its own).
  • Confusion (even if it disappears by itself).
  • Apology or inability to speak (even if it goes away on its own).
  • Sudden change in vision.
  • Intense headache.
  • Loss of consciousness.
  • Fever higher than 101 ° F (38.33 ° C).
  • Severe cough
  • Repeated vomiting or persistent diarrhea.
  • A sudden increase in the size of your spleen or your child’s. (Learn from your doctor how to feel your child’s spleen to verify its size).
  • Greater pallor
  • Daze.
  • Intense pain that can not be relieved with your usual prescription pain medications or other methods to relieve pain.

Call your doctor if you or your child have any of the following symptoms:

  • A painful event (sickle cell crisis).
  • An open sore (ulcer) in the leg.
  • Urinate more often than usual.
  • Make a pain management plan with your doctor that includes where and when to receive treatment in the event of a sickle cell emergency.


The prognosis of the disease varies. Some patients have frequent and painful sickle cell crises. Others rarely have attacks.

Falcemia is a hereditary disease. Talk to a genetic counselor if you are worried about being a carrier. This can help you understand possible treatments, preventive measures and reproductive options.