Sickle cell anemia, also known as anemia caused by sickle cells, sickle cell anemia, sickle cell disease, hemoglobin disease, is a disease of genetic origin, in which although the body produces red blood cells, they have an abnormal shape. Normal red blood cells are round and flattened like a donut without a gap and are flexible; in this type of anemia, they are crescent-shaped or sickle-like, rigid and curved. These cells do not last as long as normal cells, leading to anemia.
Moreover, they also get stuck in the vessels and block blood flow. Sickle cells cannot change shape easily, so they tend to break down or hemolyze. Normal red blood cells live for about 90 to 120 days; while sickle cells only last 10-20 days.
Among the first symptoms that can cause alarm of sickle cell anemia are inflammation of the extremities and jaundice. The swelling of the hands and feet, which usually leads to fever, is caused by sickle cells or sickle cells becoming stuck in blood vessels and blocking blood flow to and from the extremities. Jaundice is a disorder caused by a large number of decomposed red blood cells and is characterized by a yellowish hue that both the skin and the whites of the eyes acquire.
Pain episodes or crises are also frequent, which can vary in frequency, intensity and duration from one individual to another and even in the course of the same person’s life. They can be only one per year or more frequent, last only hours or reach weeks. Pain can affect any body tissue, organ, or system.
The disease also occurs with other symptoms attributed to anemia such as feeling tired, weak, dyspnea and dizziness. They may also have severe chest and abdominal pain, fever, and cough.
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How can it be diagnosed?
The disease can be detected before birth through a sample of amniotic fluid or tissue taken from the placenta, between weeks 8 and 10 of pregnancy. It is also diagnosed through a blood test, which is usually routine in newborns .
If the diagnosis has not yet been made, symptoms almost always appear in children between one or two years old; But, some people do not have manifestations until adulthood.
Through a blood sample and with procedures such as hemoglobin electrophoresis, sickle cell test or hemoglobinuria test, the existence of abnormally shaped red blood cells can be determined that confirm the condition. The test is usually repeated to corroborate the diagnosis.
How does it affect children and young people?
Young people suffering from sickle cell anemia often require blood transfusions to ensure the circulation of normal red blood cells in their bloodstream and thus the adequate delivery of oxygen to tissues and organs. They must take special care of their diet and the physical activity they perform; but with an organized life and discipline they can have fewer limitations and a higher quality of life.
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Is it a genetic alteration?
Sickle cell anemia primarily affects people of African and Hispanic American (especially Caribbean) descent , although the trait has also been found, to a lesser extent, in those of Middle Eastern, Indian, Latin American, American Indian, and Mediterranean heritage. Millions of people in the world suffer from complications of sickle cell anemia. It is a genetic mutation.
It is a disease that is transmitted by genes. Genes are found in cellular structures known as chromosomes. There are normally a total of 23 pairs of chromosomes in each cell in our body. Different pairs convey different traits and functions. The 11th par. It contains the gene responsible for the normal production of hemoglobin, if there is inheritance in both parents, it will be transmitted to the child.
What is its mode of transmission? Is it hereditary?
For a child to develop sickle cell anemia, it is necessary that each of his parents, carriers of the disease gene, pass it on to him. That is, there must be the gene contributed by both parents.
If a child inherits sickle cell trait from only one parent, they will only carry the trait, but will not develop the disease. Carriers of the trait do not have any symptoms of the disease, they do not suffer from sickle cell anemia, but since it is in their genetic information, they can pass the sickle cell gene to their offspring.
Some complications and risks to consider
Sickle cell anemia is expressed in different ways, potentially affecting practically all tissues and organs in the body . Therefore, those who suffer from it must be especially careful not to expose their vulnerability. The best care should be aimed at avoiding pain crises and infections.
They must also watch their diet and physical activity. Iron and vitamin supplements, as well as folic acid, are indicated to help the body make the red blood cells it needs.
In the presence of some of the situations you should go to the urgent doctor, among them:
- Difficulty breathing
- Symptoms of stroke
- Symptoms that the spleen is enlarged (swelling of the left side)
- Sudden partial or total loss of vision
- Symptoms of severe anemia
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Clinical care to be followed
As long as the doctor’s instructions are followed, a cautious and disciplined life is lived, children and young people with sickle cell disease can do most of the things that other people their age do. Some tips in this regard are:
- Design and follow a complete and balanced diet.
- Permanently take care of hydration
- Take vitamins and folic acid, following the doctor’s prescription.
- Exercise regularly, but without overdoing it, to avoid heat and exhaustion.
- Avoid extreme temperatures, either hot or cold.
- Avoid poorly ventilated places and heights where oxygen is scarce.
- Avoid alcohol, drugs, and tobacco. In particular, smoking is contraindicated, since there is pulmonary involvement in a large group of people who suffer from this disease.
- Have all immunizations (shots) and their boosters up to date.
- Avoid infections, for which hygiene must be maintained in all places where life is made, take care of food preparation, avoid contact with people who suffer from infections, among others.
- Rest as much as possible.
- Regularly attend consultation with the doctor.
- Find out about the disease and get updated.
Is it considered dominant or recessive? Why?
A baby will be born with him only if both genes for the disease are inherited . One is provided by the mother and the other by the father at the time of conception. If only one parent is a carrier of the trait, the baby will not suffer from the disease, but could transmit it to their offspring. This is known as autosomal recessive inheritance.
Autosomal implies that the gene is on one of the first 22 pairs of chromosomes. In such a way that it does not determine gender, so men and women are equally affected by the disease.
Recessive implies that two copies of the gene are required, one contributed by each parent for the disease to manifest itself. If it were dominant, with the contribution of only one parent, the baby would be born with sickle cell disease.
Relationship between sickle cell anemia and malaria
Malaria or malaria is a disease caused by a single-celled parasite that passes to the female of the transmitting mosquito when, to obtain the blood it needs to feed its eggs, the mosquito bites an infected person and then a healthy one. The ease with which the parasite accesses the red blood cells, where it multiplies will depend on the ability to stay alive and reproduce . When people are carriers of sickle cell anemia, without suffering from it, because they only have a gene from one of the parents, they offer significant resistance to malaria , they do not suffer from it or if they do contract it, its effects are less severe. This is because their genetic mutation protects them from infection.
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Average life, long, medium or short term?
Life expectancy for those with sickle cell anemia has increased dramatically in the last 30 years. Many individuals with it are capable of leading lives fairly close to normal well into their fourth decade of life or beyond .
Advances in preventive medicine, as well as the discovery of new therapies and medications, have reduced complications and improved the quality of life for people with this disease. Although it is a chronic and sometimes fatal disease, the severity can vary from person to person. Following medical advice and properly performing treatments can be part of the difference.
Likewise, it has recently been discovered that a hematopoietic stem cell transplant could be a cure for sickle cell anemia: but not everyone who suffers from the disease is a candidate for it.
One of the most common and sometimes difficult complications of sickle cell anemia is pain. The recommendations are inclined to alleviate it, for this massage and acupuncture are used:
Clinical studies have shown that massages reduce the perception of pain, which is why they are regularly indicated to prevent and treat the pain that accompanies the disease.
Acupuncturists work with qi, through which they manage blockages and allow the body to heal itself. In the case of sickle cell anemia, they recommend frequent sessions for long periods of time, to have sustained pain relief.
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Can you lead a normal life?
Deciding on a healthy lifestyle is the first step to leading a life close to normal, when suffering from this or other diseases. Among the recommendations, the following stand out:
- Avoid fatigue without eliminating physical activity: since people with sickle cell anemia tend to tire easily, be cautious when doing physical effort, but do not stop doing it.
- Do not expose yourself to sudden changes in temperature, as they could generate pain crises. Like entering the cold water in the sea or swimming pool in one go, or getting wet in the rain, entering a place with strong air conditioning, etc.
- Avoid tobacco, even secondhand smoke.
- Constantly hydrate and drink alcohol in moderation.
- Follow the doctor’s instructions to the letter.
- Seeking help to support your mental health: Avoid depression.
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Articles on other types of anemia
We leave you a list with the articles of the other types of anemia that we have created, to make it easier to find information:
- Anemia: Risks, Causes, Treatments and Diagnoses
- Macrocytic Anemia: Medical and Natural Treatments, Causes and Diagnosis
- Hemolytic Anemia: Risks, Causes, Treatments and Diagnoses
- Iron Deficiency Anemia: Risks, Causes, Treatments, And Diagnoses
- Sickle Cell Anemia: Risks, Causes, Treatments, and Diagnoses
- Fanconi Anemia: Risks, Causes, Treatments, And Diagnoses
- Aplastic Anemia: Risks, Causes, Treatments, And Diagnoses
- Sideroblastic Anemia: Risks, Causes, Treatments, and Diagnoses
- Pernicious Anemia: Risks, Causes, Treatments, And Diagnoses
- Normocytic Anemia: Risks, Causes, Treatments, and Diagnoses
- Small Cell Anemia: Risks, Causes, Treatments, And Diagnoses
- Megaloblastic Anemia: Risks, Causes, Treatments, And Diagnoses
Kathie Sand always saw the world of beauty as the terrain on which to build her professional career, a goal that was clear to her when she was only 15 years old. Her great concern to expand knowledge led her to settle in Paris where she studied hand in hand with the best beauty professionals and with the most advanced techniques for skin care.