Sickle cell anemia - a genetically caused disease, which is characterized by impaired production of normal chains of hemoglobin in red blood cells. This is the most common inherited form of hemoglobinopathies.
The disease is accompanied by the appearance of symptoms, negatively affecting the ability to conduct full-fledged life. In the absence of treatment directed a pathological condition can be fatal, t. k. the number of sickle erythrocytes rapidly grows, thus affecting the rate of tissue oxygen saturation.
Causes
Serpopodobnaya cell disease - an inherited abnormality. The disease is caused by a genetic mutation that leads to the fact that the human body is an increase in the number of types of hemoglobin S instead of A-version of the substance. Due to a genetic mutation of the red blood cells, which include abnormal hemoglobin, become sickle-shaped.
The inheritance of this pathology occurs in an autosomal recessive manner. At the same time, depending on the genotype of different heterozygous and homozygous forms of anemia. In some cases, sickle cell produced along with the normal and in the other - modified erythrocytes number reaches 90% of the total weight, which leads to the appearance of the characteristic symptoms.
It is believed that this mutation appeared in Africa as a result of adaptation to the local residents of malaria. People who have a pathology or are carriers of sickle cells differ immunity to the pathogen of infectious disease.
Clinical manifestations
Symptomatic manifestations of sickle-cell anemia may vary depending on the age of the patient, conditions of residence, lifestyle, as well as the presence of acquired pathologies. In most cases, the disease does not lead to the appearance of pronounced clinical symptoms in children younger than 6 months.
The first signs of the disease
The first signs of disease are the classic symptoms hemolytic anemia. The patient will complain of fatigue, dark circles under the eyes, pale skin, etc. At the same time, these symptoms have almost no influence on the general condition of the patient. With the unfavorable course of the disease may occur following signs of anemia:
- swelling of the small and large joints;
- disruption of small capillaries;
- tenderness of the joints when moving;
- fever;
- chills;
- yellowness of the skin and sclera;
- dryness of the skin.
Often due to lesions of small vessels at an early stage of anemia develops aseptic failure of the femoral head.
The second phase
The second phase is characterized by a massive loss of red blood cells and the development of hemolytic crisis. Disease in a transition phase is preceded by infection. In the bone marrow to compensate for dead red blood cells there is increased production of these cells.
Often this effect leads to hyperplasia, i.e. elongation of the feet and hands, as well as the curvature of the spine, and changing the shape of the skull. The child develops more slowly than its peers. There is a decrease in hematocrit. The symptoms that appear in this phase of anemia include:
- fever;
- hyperexcitability;
- anemic coma.
The patient has an enlarged liver and spleen. Often against the background of the defeat of these organs develop cirrhosis, cardiac hypertrophy, accompanied by increased heart rate and pathological changes on ECG. There may be signs of vascular thrombosis kidney and renal failure. In the second phase there is anemia and neurological symptoms, including .:
- headache;
- dizzy spells;
- convulsions;
- paresthesia;
- paralysis of the cranial nerves.
Often in this phase occur retinal detachment anemia, bleeding, and other disorders leading to deterioration of up to blindness. In addition, the appearance of venous ulcers.
In rare cases, there abdominal crises arising from the mesenteric vascular thrombosis. This violation is accompanied by severe pain and shock. The development of such a crisis can be fatal. Severe the patient's condition is aggravated by frequent infections and disorders of cerebral circulation.
protracted form
Without targeted treatment sickle-cell anemia flows into a long form. For this phase of the disease characterized by a strengthening neurological symptoms and liver function disorders. Often at this stage there are complications such as sepsis.
A man concerned about pain and disorders caused by blockage of blood vessels. The symptoms of this disease are amplified phase currents on the background effect of low temperatures, stress, fatigue and other factors.
methods of diagnosis
To identify sickle cell anemia patient requires consultation of a hematologist. The first evaluated existing person's symptoms and family history. After that, the following studies are assigned:
- general and biochemical blood tests;
- Ultrasound of the abdomen;
- X-rays;
- bone marrow puncture;
- study blood sample buffers;
- hemoglobin electrophoresis.
This abnormal condition can be detected even during fetal development of the child.
prenatal screening
Conducting prenatal screening allows you to specify the degree of probability of occurrence of a child suffering from this disease. Prospective parents must pass their genetic material to clarify the carrier of mutated genes and the possibility of their inheritance. In addition, prenatal screening involves a chorionic villus sampling to clarify the presence of disease in the fetus.
neonatal screening
Neonatal screening involves sampling of genetic material from the baby immediately after birth for further analysis. This research in many countries is a must. In Russia, conducting neonatal screening is carried out only at the request of parents.
disease treatment
The treatment of sickle-cell anemia in the acute phase, in most cases performed in a hospital. In order to eliminate manifestations of disease prescribers transfusion procedures and restorative therapy. After stabilization, patients are encouraged to maintenance treatment.
medicines
Preparations are selected taking into account the available symptomatic manifestations. To increase the amount of hemoglobin and red blood cells is assigned Hydroxyurea. To eliminate the pain apply:
- Tramadol.
- Promedolum.
- Morphine.
In some cases the required level of iron in the blood correction. For drugs, contributing to a reduction of this trace element, include:
- Desferal.
- Eksidzhad.
- Deferoxamine.
Given that patients often observed decrease in immunity, selected drugs that inhibit pathogens. Antibiotics, which are often prescribed for anemia include:
- Amoxicillin.
- Erythromycin.
- Tsefuroksin.
In order to prevent the formation of blood clots, and anticoagulants can be assigned desagregants. In addition, frequently used multivitamins and folic acid preparations, allowing to maintain the overall health of the patient.
blood transfusion
Alleviate the condition of a patient suffering from such a disease, like sickle cell anemia, allow red blood cell transfusions. This procedure helps to improve tissue oxygenation. Blood transfusion is used only in severe cases, since there is a risk of complications.
restorative therapy
Restorative therapy allows you to maintain a normal level of the patient condition. To reduce the risk of infectious pathologies is recommended vaccination against pneumococci. We need to be regularly scheduled examinations for early detection of bacterial infections.
prophylactic antibiotic therapy may be recommended. In some cases, patients suffering from anemia, it is required to take maintenance doses of folic acid preparations and hydroxyurea.
Forecast and consequences
In treatment of people who suffer from this medical condition like sickle cell anemia, can reach old age. In severe, life expectancy of patients is around 15-17 years. Fatal outcome in most cases occurs as a result of the following complications:
- pneumonia;
- sepsis;
- meningitis;
- ischemic stroke;
- heart failure;
- renal failure;
- retinopathy;
- cirrhosis;
- pulmonary hypertension;
- myocardial ischemia;
- osteomyelitis, etc.
These violations have a negative impact on the general condition of the patient, so their development worsens the prognosis of disease.
prevention
In order to prevent the rapid development of sickle-cell anemia to avoid the influence of provoking factors, including overvoltage, infections, dehydration, temperature changes etc. You need to have regular and timely vaccination procedures available to treat chronic pathology. People suffering from this disease need lifelong being under the supervision of a hematologist.
