There are so many possible causes of anemia, according to the Internet edition for girls and women from 14 to 35 years old Pannochka. net Sometimes anemia occurs as a result of certain chronic diseases, such as cancer or kidney disease.

For such patients, the treatment of anemia is an integral part of the treatment of their underlying disease.

But anemia can also be caused by a number of genetic variations that are transmitted from generation to generation. Genes, half of which we get from the father, and half from the mother, encode absolutely all the functions of our body, and hematopoiesis including.

Like all other processes in the human body, the production of red blood cells takes place in several stages, in which hundreds of different molecules participate. If at any of these stages something goes wrong, as conceived by nature, the ripening of red blood cells can be disturbed, and anemia will occur.

The way the body absorbs iron and vitamins from food is very important for the proper production of blood cells. If the body is not able to assimilate, for example, iron, then the synthesis of hemoglobin will be disrupted, and our red blood cells will not be able to deliver enough oxygen to the cells. The violation of nutrient absorption is the first possible mechanism of hereditary anemia. But, as you will see later, he is far from the only one.

What is anemia?.

Anemia is a condition in which the content of the hemoglobin pigment in the blood decreases, and the number of erythrocytes decreases. The main problem with anemia is insufficient supply of tissues with oxygen, which affects the condition of almost all organs and systems, especially the nervous system.

In patients with anemia, weakness, excessive fatigue, dizziness, irritability, shortness of breath, rapid heartbeat, pale skin and mucous membranes, brittle nails and other symptoms may occur.. Some patients have a strange craving for inedible things, such as ice, paper or clay. There are problems in the sexual sphere. The ability to perceive information and solve intellectual problems deteriorates. Immunity falls and, as a result, a person suffers more often from infectious diseases.

Doctors usually focus on common types of anemia caused by iron deficiency, aging, advanced operations and chronic diseases, including cancer, diabetes, inflammatory bowel disease, kidney disease, heart disease, hepatitis, HIV / AIDS, rheumatoid arthritis and others.. These types of anemia are well known, and one can find a lot of information resources devoted to such problems, especially in the English-speaking Internet.

We can please English-speaking users by listing for them the most well-known in the West groups and funds that provide very high-quality information about anemia, including hereditary:.

• American Association of Sickle Cell Anemia (The American Sickle Cell Anemia Association).

• International Thalassemia Federation (Thalassaemia International Federation).

• The International Foundation for Hereditary Hemorrhagic Telangiectasia (Hereditary Hemorrhagic Telangiectasia Foundation International).

• Diamond Blackfan Anemia Foundation.

• Cooley's Anemia Foundation • Fanconi Anemia Research Fund,.

• The Shwachman-Diamond Syndrome Foundation.

Hereditary anemia.

Less common are hereditary anemia, which is caused by genetic failures at different stages of production of red blood cells. These diseases can lead to the synthesis of "irregular" erythrocytes or hemoglobin, to the rapid destruction of red blood cells (hemolysis), etc.. Below you will find a list of the main genetic diseases leading to anemia:.

Sickle-cell anemia.

Sickle-cell anemia is a genetic disease in which the red blood cells have an anomalous crescent shape or the letter "C". These abnormal erythrocytes do not cope with their functions, and stay in the bloodstream for only 10-20 days instead of those prescribed for healthy cells 120 days. The body constantly synthesizes new cells, but anemia develops because of the short period of life of red blood cells. The most affected people are people of African descent.

Thalassemia.

Thalassemia is a disease in which the body improperly synthesizes some of the proteins needed to "assemble" hemoglobin. Moderate or severe anemia can result from the absence of certain proteins, depending on this thalassemia is divided into several types. Thalassemia can be treated with continuous blood transfusions or bone marrow transplantation. The disease is typical for people from Mediterranean countries.

Fanconi Anemia.

Fanconi anemia refers to diseases in which the bone marrow can not produce both erythrocytes and other types of blood cells (leukocytes and platelets). This leads to anemia, which is treated by bone marrow transplantation. Such patients often have other birth defects, as well as an increased susceptibility to various types of cancer (acute myeloblastic leukemia, head and neck cancer, esophageal cancer, vulvar cancer, anal cancer, and others). This diagnosis is often put to children aged 10-15 years, but Fanconi anemia can be first detected and in adulthood.

Diamond-Blackfang anemia.

The Diamond-Blackfang anemia is a rare disease characterized by a defect in the synthesis of red blood cells in the bone marrow. Anemia of Diamond-Blackfen can develop at any age, but it is usually diagnosed during the first year of life. With this disease, there are also some physical defects and anomalies of the facial features. Patients have a relatively high risk of acute myeloblastic leukemia.

Syndrome Shvahmana-Diamond (SDS).

This syndrome, infrequent in the domestic literature, is a genetic disorder in the synthesis of white and red blood cells in the bone marrow and digestive enzymes of the pancreas. Reduced production of blood cells leads to persistent infections and anemia. Symptoms begin to appear already at the age of 4-6 months: slow growth, diarrhea, feeding problems. From the side of the pancreas, there are disorders resembling cystic fibrosis. Disease is diagnosed in the first years of a child's life.

Disorders of the erythrocyte membrane.

These diseases cause instability of the cellular structure and the appearance of red blood cells of abnormal form. The most famous of these pathologies is hereditary microspherocytosis, or Minkowski-Schoffar's disease. With this disease, red blood cells have an unusual spherical shape and are rapidly destroyed. This disease is typical for people born in Northern Europe.

Hereditary elliptocytosis is accompanied by the formation of a large number of oval erythrocytes. The disease is more common in people of African or Mediterranean origin.

Hereditary dentocytosis is the third form, which is characterized by the formation of erythrocytes with a light area in the middle (similar to the mouth, hence the name of the disease). These cells have disrupted the transport of sodium and potassium through the membrane. The severity of anemia varies, some patients may not have any complaints at all.

Deficiency of glucose-6-phosphate dehydrogenase.

Deficiency of the enzyme G6PD is a hereditary disease in which an important enzyme is not produced in the body that protects blood cells from destruction by chemicals and medicinal substances. Deficiency of G6PD is the most widespread on the planet enzyme deficiency, which affects more than 400 million people, mainly from Africa, Asia and the Mediterranean. Such people in response to infection, toxins or drugs can develop hemolysis - mass destruction of red blood cells.

Hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (NGT) is a condition in which patients often have bleeding in places where the veins and arteries are not properly connected. As a result of repeated loss of blood, mainly from the stomach and intestines, they develop anemia.

Other genetic diseases.

The diseases listed above are only a part of the possible genetic causes of anemia. People with any disease that worsens the bone marrow or affects the absorption of vitamin B12 or iron in the digestive tract may also suffer from anemia.

Such diseases include:.

• Congenital dyskeratosis.

• Congenital dysergothropoietic anemia.

• Congenital malabsorption syndromes of vitamin B12.

Of the diseases that affect the exchange of iron, you can note hemochromatosis. This disease is not the cause of anemia. In hemochromatosis, the body absorbs much more iron than it needs. As a result, excess iron is deposited in organs and tissues, damaging them. Hemochromatosis is one of the most frequent genetic diseases. On the study of this disease in the United States specializes non-profit organization Iron Disorders Institute.

Diagnosis of hereditary anemia.

Since hereditary anemia is caused by certain disorders in the genes, there are many reliable ways to diagnose. The presence of anemia and other characteristic symptoms can lead the doctor to the idea that you have one of these diseases. Genetic analysis will dot all the "i". To help the doctor in this job, you should tell him as much as possible about the health status of your relatives.

To do this, you would be nice to have a family medical history - a systematic record of the health of all relatives.

medbe. en.