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Hereditary aplastic anemia: causes, symptoms, and treatment

 Aplastic anemia is defined as a deficiency of cellular compounds in the blood due to their lack of production in the bone marrow.

Hereditary aplastic anemia: causes, symptoms, and treatment

Approximately 30% of cases of aplastic anemia in children are genetically determined, the majority of which are caused by anemia known as Fanconi anemia, and are characterized by the appearance of congenital anomalies and the possibility of developing malignant tumors.

The disease is transmitted genetically and recessively at a ratio of 1: 5,000,000, that is, one case for every 5 million people.

Recent years have seen advances in the understanding of disease caused by a defect in one of the eight genes that code for different proteins involved in correcting errors in DNA, and 

identifying the genetic defect allows the detection of carriers and the reduction of disease through prenatal diagnosis in particular. In the first trimester of pregnancy.

When the genetic defect is unknown, we can make a prenatal diagnosis based on broken chromosomes.

disease progression in patients

Patients with aplastic anemia generally suffer from a defect in development that begins inside the uterus, and the characteristic congenital malformations of the disease appear in the structures of the upper extremities, i.e. in the thumb and forearm.

About a third of patients with aplastic anemia do not have congenital anomalies, and their first signs of the disease are detected during their first decade of life with the onset of advanced bone marrow failure.

In the second decade of life, leukemia develops in some of these patients, and patients who live to their third decade of life have a tendency to develop other malignant tumors, especially in the mouth and in the female reproductive system.

Symptoms of hereditary aplastic anemia

The main symptoms of aplastic anemia are:

1. General symptoms of aplastic anemia

Aplastic anemia is characterized by:

  • headache;
  • dizziness;
  • nausea;
  • shortness of breath.
  • bruising;
  • Loss of energy and fatigue.
  • the pallor of the skin;
  • blood in stool
  • Bleeding from the nose.
  • bleeding gums
  • fever.
  • Sinusitis.
  • White spots in the mouth.
  • Enlargement of the liver and spleen.

All of the above symptoms overlap with other blood disorders, so if they appear, you should go to the doctor for a diagnosis.

2. Symptoms of aplastic anemia in children

Among the most prominent symptoms that affect children and those who suffer from Fanconi anemia are the following:

  • short stature
  • The spots appear as hypopigmentation.
  • Thumb anomaly.
  • microcephaly;
  • Hydrocephalus.
  • Hypogonadism.
  • delayed growth

Causes and risk factors for hereditary aplastic anemia

Hereditary aplastic anemia occurs when one of the following genetic disorders:

  • Fanconi anemia.
  • Shwachman diamond syndrome.
  • Dyskeratosis congenita.
  • Diamond-Blackfan anemia.

Recently, a new type of hereditary aplastic anemia has been discovered due to the excessive shortening of the ends of chromosomes called telomeres. 

The disease is usually diagnosed in adults, and the patient's family members may have a history of aplastic anemia or cirrhosis of the lungs or liver.

This type of aplastic anemia can only be diagnosed with special tests.

Complications of hereditary aplastic anemia

Complications of aplastic anemia include:

  • severe bleeding
  • catch the infection quickly.
  • Complications from a bone marrow transplant.
  • Increased iron concentration in the blood.
  • Diagnosis of hereditary aplastic anemia

Aplastic anemia can be diagnosed as follows:

1. Take a family history

The doctor asks the patient about the presence of a family member with aplastic anemia, and the doctor asks the patient about his exposure to any chemicals that may cause his disease.

2. Physical examination

The doctor inquires from the patient about the presence of symptoms, and the presence of bruises that characterize the disease is detected in the patient's body.

3. Blood analysis

Through blood analysis, the number of red blood cells and the strength of the blood can be detected, and it also helps in knowing the functions of the liver and kidneys, and genetic tests.

Some tests may also be done to detect viruses that may interfere with the onset of the disease.

4. Bone marrow biopsy

The bone marrow is profoundly low in cells with a decrease in all hematopoietic components, and the remaining hematopoietic cells are not malignant.

Treatment of hereditary aplastic anemia

The treatment is as follows:

1. Bone marrow transplant

The best solution to treat bone marrow failure and prevent leukemia is a bone marrow transplant if there is a suitable donor from the family in terms of tissue diversity.

This treatment does not solve the susceptibility to the development of other malignancies that may appear, 

and all potential donors must undergo tests to ensure that they do not suffer from the disease.

Recently, a previous genetic diagnosis was performed which guarantees the birth of a healthy child that can be harnessed as a suitable donor for the sick child.

2. Hormone therapy

Patients who do not have a suitable bone marrow donor present a treatment problem that necessitates the administration of drugs such as androgens and growth stimulants as a temporary measure.

3. Other treatments

Some simple, secondary treatments can be used to reduce symptoms, such as:

  • Blood transfusion for a sick person.
  • Giving an appropriate antibiotic to prevent infection.
  • Medicines to reduce immune reactions.
  • Medicines stimulate the bone marrow to make more cells.

4. Treatments under study

Among the possible solutions in the future is gene therapy which includes inserting a gene into stem cells in the peripheral blood. 

One of the most important obstacles to the success of this treatment method is the limited effectiveness of the process of inserting genes into stem cells, in addition to their small number in aplastic anemia.

Prevention of hereditary aplastic anemia

Symptoms of aplastic anemia can be prevented by:

  • Take care of personal hygiene.
  • Stay away from crowded areas and people for patients.
  • Wash hands well.
  • Eat healthy and well-cooked food.
  • Make sure to brush your teeth regularly.
  • Get the flu shot annually.
  • Take care of physical activity and exercise.

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