Sickle cell anemia: hereditary, incurable, fatal

Proven content

Sickle cell anemia is an inherited disease of the blood system, consisting in an abnormal structure of hemoglobin, responsible for the transport of oxygen. This type of anemia is hereditary. The disease is most common in Central and West Africa.

– Some times are really tough. But I’ve learned to deal with them. When a crisis begins, and it usually lasts 7-10 days, I take a small amount of painkiller powders, but I do it often. Thanks to this, I have pain under control all the time. It happens that I have several crises during the year, and sometimes none for a few years, says Silvia. He comes from Italy, is 41 years old and suffers from sickle cell anemia all his life.

Sickle cell anemia – a blood disease

Red blood cells, genetically altered by sickle cell anemia, have a different shape than healthy red blood cells – they resemble a sickle. It is with the recognition of their shape that the diagnosis of the disease begins. This characteristic structure also causes complications later – it can cause erythrocyte clumping and disturbances in blood supply to organs, thrombosis, bacterial infections, heart attacks and even organ necrosis.

– I have an enlarged heart, liver and thyroid gland. I have to do checkups from time to time. I also have cataracts in both eyes. Last year I had a hip replacement surgery because I had necrosis on my femur head. I had my first surgery when I was 9 years old. Then my spleen was removed, says Silvia.

Sickle cell anemia – symptoms

– In infants, the first sign of sickle cell anemia may be swelling of the hands and feet, caused by the small blood vessels being blocked by abnormal red blood cells. Children grow more slowly, there is a shortage of height and weight, there may be delayed puberty – comments Prof. Anna Latos-Bieleńska, head of the Chair and Department of Medical Genetics at the Medical University of Poznań and head of the Genetic Clinic at the Genesis Medical Genetics Center.

– I remember when we had to rush to the hospital at night because the older son, four years old, was writhing with pain in his back. The two-year-old daughter had swollen hands – says Wiktoria, mother of two children with sickle cell anemia and a carrier of the mutated gene.

Dr. Maxwell P. Westerman, a Chicago haematologist and oncologist, in an article assessing the frequency of painful episodes in sickle cell disease, reported that they could last from a few minutes to several weeks. Each subsequent crisis is different in terms of pain intensity, location and duration. – Fortunately, the periods that require hospitalization are not common. On average, this is 0,8 cases per patient per year, the scientist argues in the study. Unfortunately, severe crises can last for weeks or even months.

– In a crisis, my son’s hemoglobin can suddenly drop to 5 g / dl, although the norm is over 11 g / dl – says Wiktoria.

– For me, the norm is 8-9 g / dl, and the record-low result so far is 3,5 g / dl. Then I made doctors fear. I needed an urgent transfusion, adds Silvia.

Sickle cell anemia – Pharaoh’s disease

A few years ago, a team of Egyptian scientists examined the mummy of Tutankhamun using new technologies: they performed a genetic analysis and x-rayed them with X-rays. After the research, it was announced that the cause of the death of the pharaoh was probably malaria. This was indicated by the found genes of the parasite causing the disease and the necrosis of bone tissue, from which the ruler was to suffer during his lifetime. However, two German researchers, Christian Timmann and Christian Meyer from the Institute of Tropical Medicine in Hamburg, disagreed with the conclusions. Another disease, sickle cell anemia, which researchers believe Tutankhamun died of, was better suited to the study results. Today thousands are dying of it.

According to research on the global burden of disease, in 2013 alone, sickle cell anemia led to the death of 176. people. At the same time, almost 300 are born every year. children with this genetic disease – in India, the United States, Mediterranean countries, but mainly in sub-Saharan Africa. Why exactly there? For many centuries, the human body in this part of the world has been trying to find a way to deal with a disease for which there is still no vaccine and which takes one million deaths a year – malaria. Sickle cell anemia can be considered as such. When infected with a parasite, the development of the parasites is hindered by the mutant gene. Its carriers are therefore more resistant to malaria.

Sickle cell anemia – a hereditary disease

– In Poland, cases of sickle cell anemia are very rare, but because nowadays people travel, study, work and live in different places of the world, there are relationships with people from countries where the frequency of mutation carriers for sickle cell anemia is significant – says Prof. Anna Latos-Bieleńska. – In Poland, I had to deal with questions about genetic tests for the carrier of mutations for sickle cell anemia, we do such tests and it happens that the presence of mutations is detected – he adds.

– When the older son was hospitalized for the first time, the doctor advised us to be genetically tested. We both turned out to be carriers – says Wiktoria.

A host can live a whole life without knowing about the mutant gene. He feels no discomfort and has no symptoms of illness. However, when he meets another vector and sire with him, the chances of having a child with sickle cell anemia are 25 percent.

– I have four siblings. Only me and my youngest sister are sick. Two older sisters are carriers, but fortunately they did not pass the mutation on to their children. My youngest brother, on the other hand, is clean as a whistle – says Silvia.

Sickle Cell Anemia – Treatment?

In the middle of the last century, Nobel laureate Linus Pauling proved that the mutant gene that causes sickle cell anemia is responsible for the production of hemoglobin. Thus, sickle cell anemia became the first genetic disease to be associated with a defect in a particular protein.

However, despite the passage of time, there is still no cure for this type of anemia. Therapy mainly consists of blood transfusions to prevent strokes, antibiotics to stop the infection from developing, and painkillers to relieve symptoms. – Recommendations also include preventive administration of penicillin to patients with sickle cell anemia up to 5 years of age and at the age of 2 to 16 years of annual Doppler examination of the head. Appropriate physiotherapy is important – lists prof. Anna Latos-Bieleńska.

– Recently, the older son had his first blood transfusion. He woke up in the night crying. He was pale, his lips turned blue, he was holding his belly because it hurt a lot. We drove to the hospital, where they bloodied him and put him on a respirator. The nurses said afterwards: it’s a miracle that you made it a while longer and it could be too late – says Wiktoria.

According to a 2001 study in Jamaica, the average life expectancy of men with sickle cell anemia is 53 years, and of women – 58 years. Every tenth patient dies before twenty.