Sicklemia or falciform cell feature

Falciform cell anemia is a hereditary genetic disease that deforms red blood cells, hindering their circulation and causing pain, anemia, infections and other complications. It affects millions of people worldwide, especially of African origin.

Falciform cell disease or anemia (ECF) or drepanocytosis is a hereditary diseasepresent from birth, caused by a mutation in the beta globina gene (HBB) located on chromosome 11, which causes the production of abnormal hemoglobin (HB S). Hemoglobin (HB) is a protein present in the red (or red blood cells) that transports oxygen from the lungs to the tissues and organs of the body. Hemoglobin A (HB A), which constitutes 95-98% of HB in adults, is formed by two alpha globin chains and two beta globin chains.

In the ECF, abnormal hemoglobin, under conditions of deoxigenation, alters the shape of erythrocytes, which adopt a form of “C” or hoz (falciform cells), modifying their deformability, which makes it difficult to circulate through the blood vessels, and at the same time it makes them more fragile.

How is it inherited?

The genetic mutation can inherit both parents (homozygosis SS), of one of the parents (heterozygosis SA), or in combination with another hemoglobin variant (double heterozygosis).

Falciform trait

Inheritance in heterozygosis (SA) receives the name of falciform or drepanocytic trait. These patients live a normal life although they can experience symptoms in extreme conditions of severe dehydration or High oxygen requirement. They can transmit the disease to their children: if both parents are carriers of the disease there is a probability of 25% that a child is affected by the disease.

Is this disease very frequent?

The disease It affects 8 million people around the worldbeing more frequent in people of African descent, including African Americans (among which 1 in 12 is a carrier), Latin American and people of ancestry of the Middle East, Asia, India and Mediterranean.

What symptoms produce?

The symptoms experienced by patients are due to the blockage of blood flow (vasoocclusion) produced by the greater rigidity of falciform cells and by the destruction of these cells being more fragile (hemolysis):

• Pain crisis also known as “falciform or vasooclusive cell crisis (Cvo) ”that can last several days. In addition to acute and intense pain, which It requires hospital attentionmost patients suffer from CVO episodes that control at home with oral analgesia, as well as chronic pain (especially in adults). In children under 2 years of age, a limited vasoocclusive picture is frequent to hands and feet called dactylitis.
• Acute thoracic syndrome that heals with chest pain, cough, fever and respiratory difficulty due to a defect in lung perfusion.
• Stroke
• Leg ulcers.
• Delay of growth and puberty and skeletal deformities.
• Eye problems (falciform retinopathy), joint (bone heart attacks), cardiac (coronary heart disease), pulmonary (pulmonary hypertension …) renal (renal failure …), liver, priapism (prolonged erection).
• Enlarged spleen and more risk of infections. In these patients, fever is a medical emergency.
• Hemolytic anemia that causes fatigue, paleness and jaundice and dark urine by decomposing hemoglobin in bilirubin. Bilirubin can cause bile calculations. A severe anemia in a newborn or a child with ECF can also be produced by 1) a B19 parvovirus infection that causes a aplastic crisis (the bone marrow stops producing new red blood cells) 2) Splenic kidnapping crisis: red blood cells are trapped in the spleen.
• Greater risk of thromboembolic venous disease.

What evolution and prognosis do you have?

The evolution of the disease is variable but the disease conditions the quality of life, may require frequent hospitalizations and reduces life expectancy (which is around 50 years old). In African countries the mortality rate is 15% in the first year of life and 36% to 5 years. If you identify some of these symptoms, remember that in Mapfre health insurance you have a great medical picture that will help you identify all the symptoms you can present.

Calculate your price

What you should know …

• The disease or anemia of falciform cells (ECF) or drepanocytosis is a hereditary disease, present from birth.
• The disease affects 8 million people worldwide, being more frequent in people of African descent.
• One of the most frequent symptoms are the pain crises also known as “falciform or vasoocclusive (CVO)” crisis that can last several days.

Posted by Dr. Roser Mateu