Anemia associated with congenital erythroblastosis

Congenital erythrocyte anemia is an umbrella name for a group of rare genetic diseases characterized by a disturbance in the production of red blood cells in the bone marrow for an unknown reason.

Anemia associated with congenital erythroblastosis

Classification of anemia associated with congenital erythroblastosis

In 1967, this group of diseases was classified into three subgroups:

1. Anemia associated with congenital erythropoietic dysplasia type I

It is transmitted by autosomal recessive inheritance, and so far about 80 patients from different parts of the world have been diagnosed with this disease.

Most patients present from birth with anemia and sometimes an enlarged liver and spleen, and they also have symptoms of congestive heart failure (CCF).

The severity of the disease varies during life, from simple anemia to transfusion.

In patients who suffer from simple hepatitis, enlargement of the liver and spleen may develop, 

and with age, hemochromatosis may develop, which requires treatment in some elderly people with iron-binding preparations.

A few patients have a disorder of the bone structure, especially the syndactyly, and some patients respond to treatment with interferon-alpha, but the mechanism is unknown.

In the examination of the bone marrow with an electron microscope, red stem cells can be seen, while the structure of the nucleus and the nuclear membrane is not intact.

The altered gene in the disease has been identified on chromosome 15 and, as it was recently distinguished, the gene is encoded into an unknown protein.

2. Anemia associated with congenital erythrocyte dysgenesis type II

The most common form of this disease, which is also autosomal recessive, is characterized by anemia of various degrees of severity, but not related to blood transfusion.

Hepatitis and enlargement of the liver and spleen may also appear.

In later life hemochromatosis and gallstones develop, and in the bone marrow, binuclear cells can be seen.

In the blood test, red blood cells are disintegrated in the patient's body and go through the process of lysis in the acidic serum of a healthy person who is suitable in terms of blood type.

By applying an electric field to the membranes of erythrocytes, rapid movement can be seen in the clip.

The gene is located on chromosome 20, but in about 10% of cases, it damages another chromosome that has not yet been identified.

3. Anemia associated with congenital erythropoiesis type III defect

This is a very rare form of the disease and is passed on by autosomal dominant inheritance.

Most of the patients affected by this type of disease belong to the same family of origin from Sweden.

Several cases of anemia associated with congenital erythropoietic dysgenesis have been described that do not fit any of the three groups mentioned above, but it is not known if these are atypical images but belong to the known groups, or if they are new groups.

Symptoms of anemia associated with congenital erythropoiesis

Most patients with anemia accompanying congenital erythropoiesis suffer from the symptoms of chronic anemia, which are as follows:

  • Fatigue and loss of energy.
  • jaundice;
  • splenomegaly.
  • gallstones;
  • short stature
  • Small fingers.

Some people do not show signs or symptoms of anemia associated with congenital erythropoiesis and are diagnosed during a routine physical exam, or through tests for other conditions.

Causes and risk factors of anemia associated with congenital erythropoiesis

Anemia associated with congenital erythropoiesis is a genetic disorder caused by defects in the genetic code of a person. Scientists have discovered six genes associated with anemia 

associated with congenital erythropoiesis, but they believe that many other genes may be the cause of the disease.

Complications of anemia associated with congenital erythropoiesis

The most prominent complications of anemia accompanying congenital erythropoiesis are:

  • severe jaundice;
  • Liver and spleen enlargement.
  • Large gallstones form.

Diagnosis of anemia associated with congenital erythropoiesis

The signs and symptoms of congenital dysplastic anemia are similar to those of other blood disorders, making diagnosis difficult.

It's unusual for patients with congenital dysplastic anemia to have another condition, such as hemolytic anemia, and genetic evaluation gives them an accurate diagnosis.

Among the most important examinations that the doctor orders to perform:

  • blood tests;
  • Bone marrow analysis.
  • Tests to find out the causes of jaundice.
  • Some imaging and laboratory tests measure the concentration of iron in the body.
  • Genetic examinations.

Treatment of anemia associated with congenital erythropoiesis

Depending on the severity of the disease and the symptoms experienced by patients, doctors treat patients with anemia associated with congenital erythropoiesis as follows:

Blood transfusion: In the event of severe anemia in the volume of blood in the body.

Drug treatment: such as drugs that treat high iron in the blood (Iron chelating agents), and interferon alpha drugs used in the first type in particular.

Surgical operations: Some severe cases require the removal of the spleen or gallbladder.

Bone marrow transplant: Bone marrow transplant is the only treatment that cures the disease, but it is only used in very severe cases.

Doctors will determine the best approach to treating a child's condition based on several factors including age, general health, the severity of illness, and interactions between 

Medications or treatments.

Since there is no definitive treatment other than hematopoietic stem cell transplantation, children and adolescents with anemia associated with CRP need long-term follow-up to monitor for complications.

The importance of monitoring liver, endocrine, and heart problems increases with age, due to the stress caused by low hemoglobin and high iron levels in the blood.

Prevention of anemia associated with congenital erythropoiesis

There are no special ways to prevent anemia associated with congenital erythropoiesis, as it is often passed on through genes.

But early diagnosis and treatment can relieve symptoms and prevent complications.

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