What is sickle cell disease?

Also called sickle cell anemia, sickle cell disease is a genetic inherited disease resulting from a mutation of hemoglobin. The disease can be transmitted by both parents, it is obviously not contagious. The name “sickle cell disease” comes from the Greek drepanon which means sickle, because in this disease, the red blood cells take the form of a sickle or a crescent. A healthy red blood cell is circular, while a red blood cell of a sickle cell is deformed.

Sickle cell disease is a genetic disease of hemoglobin, a substance found in red blood cells that is used to carry oxygen through the body. It is manifested by anemia (is characterized by tiredness, dizziness, shortness of breath …), sensitivity to infections, and painful crises caused by poor blood circulation and lack of oxygenation of tissues (especially bones) . The manifestations are very variable according to the people and over time for the same person.

The causes of sickle cell disease

Sickle cell disease is caused by a mutation in codon 6 of the β-globin gene resulting in the substitution of a valine for glutamic acid. The mutation of this allele corresponds to the substitution of the nucleotide in 17th position. On the Beta A allele of a healthy individual, it is an adenine, while on the Beta S allele of a sickle cell individual, this seventeenth nucleotide is a thymine. This mutation causes a nucleotide A to be replaced by a T nucleotide that involves a codon change at the level of the messenger RNA, serving to produce the protein: the codon GAG becomes GUG. This mutation causes the deformation of the red blood cell in the shape of a sickle.


Symptoms of sickle cell disease

Sickle cell disease has the distinction of manifesting itself differently from one patient to another but also in the same patient according to the different periods of life. The three main symptoms are anemia, painful seizures and increased susceptibility to infections.

– Pain in the feet, hands, abdomen, back, chest, and sometimes bones. All parts of the body may be concerned. It can be abdominal pain, common in children and more rarely in adults. -Weakness and general fatigue, dizziness (caused by anemia)

-Aplastic seizures are characterized by manifestations such as fever, headache (headache), abdominal pain, loss of appetite or vomiting.

-Yellow eyes and skin. In people with black skin, this symptom is only visible in the eyes.

– Strokes (cerebrovascular accidents): This most often affects children (especially between four and six years), even if sometimes adults are affected. Symptoms often appear and disappear suddenly, but the risk of their recurrence is high. Your child can recover but in many cases stroke causes damage to the brain leaving irreversible sequelae

-children, painful swelling of the feet and hands.

– Leg ulcers: Some people may have more or less deep sores (ulcers) on the lower legs and the top of the feet. Ulcers occur more often in men than women, between 10 and 50 years of age. They can take a long time to be absorbed, which is why it is important to quickly treat any sore in the leg to prevent progression to the ulcer, or its aggravation.


Who can be sick with sickle cell disease? Is it present everywhere in the world?

It is in Africa, on both sides of Ecuador, that we find the highest rates of carriers of the sickle cell trait and patients. Sickle cell disease is also present in India, Latin America (especially Brazil). When the genetic defect involved in sickle cell disease is present in only one copy, it confers a natural resistance to malaria, which explains why it is more frequent in these highly exposed regions.

The diagnosis of sickle cell disease

The diagnosis of sickle cell disease is based on 3 reference exams:

– A blood smear: it allows to examine the shape of red blood cells through the use of a microscope. Its purpose is to reveal the presence of red cells in the shape of a “sickle”.

– Electrophoresis of hemoglobin: This is an examination to highlight a high level of hemoglobin S, involved in the disease.

-The NFS (number of the blood count) It specifies the importance of the anemia which is variable, the rate of hemoglobin varying on average from 6 to 10 g / dI.

Sickle cell disease and pregnancy

You are sickle cell and pregnant, rest assured. Most pregnancies of sickle cell women are uncomplicated. However, a pregnant sickle-cell woman should expect greater supervision of her pregnancy as complications can occur at any stage of pregnancy. Pregnant women with sickle cell disease have to undergo medical visits much more frequently than other pregnant women. In fact, pregnancy puts additional pressure on the woman’s body and increases the likelihood of a sickle cell crisis.

In addition, sickle cell disease puts pregnant women at risk of miscarriage (early or late), in utero growth retardation, high blood pressure, pregnancy-induced hypertension, and premature delivery. However, thanks to our treatment, pregnant women with sickle cell disease are likely to have a normal and safe pregnancy. If you are sick and pregnant, and are afraid for you and your baby, please let us know. We will consider it for your treatment.



What are the risks of sickle cell disease to the unborn baby?

Pregnant women with sickle cell disease may give birth to a baby with sickle cell disease. If you have sickle cell disease and want to have a child, make sure your partner is examined. The analysis of the hemoglobin of your partner, will determine if there is a risk of sickle cell disease in the future baby, to propose a prenatal diagnosis. The sickle cell woman will have a healthy child, if the father of the child is AA. The risk of the baby having the disease is high if both parents carry the gene. If your pregnancy was unplanned and both of you are sick, consider consulting a genetic counselor to let you know what options you have. You must make all arrangements for a screening test to be given to your baby at birth.

Sickle cell disease and marriage

You are young and beautiful, you think you have found a soul mate, this person who will make you happy for the rest of your life and you consider marriage. When we love each other, before considering marriage, it is important to carry out certain examinations among which electrophoresis. This examination makes it possible to determine the possibilities or risks of possible sickle cell disease (SS or AS anemia). Two AS people can father one SS child (1 in 4 probability), one AA child (1 in 4 probability) or 1 AS child (1 in 2 probability). If you and your spouse are carriers of the gene, the risk of your children being sickle cell is great.

Several questions of a purely ethical nature then arise. He has sickle cell disease like me, do we have to give up marriage? Should we renounce marriage with the love of his life because we do not want to see our children suffer from sickle cell disease? You feel guilty, you hesitate. Or should you take the risk and live your love because you love? As we say in Africa, love to all rights and all of us homework.

This question is Cornelian and everyone can answer it according to their own convictions. One thing is certain, in either case your choice will be the best and no one can judge it. Only you know what you are going through. No doctor in the world will give you the answer to this question. This answer is there, deep in your heart. Make the choice that you judge right.

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