anemia 7 types causes and treatment

Anemia: 7 types,causes & treatment

Anemia is a condition in which the number of red blood cells and the concentration of hemoglobin in the blood are not sufficient to transport enough oxygen to meet the needs of all the tissues of the body. According to the World Health Organization ( WHO ), hemoglobin levels below which anemia can be diagnosed are 13.4 g / dL for men and 12 g / dL for women .

It is not a disease outright, but the symptom of an underlying pathology. So, depending on the cause that generated it, there are different forms of anemia, each with different levels of severity.

However, the decrease in hemoglobin concentration can be a temporary problem, linked to particular events (such as surgery or trauma) or chronic.

In general, the total number of red blood cells may be lower than normal due to a reduced production (as in the case of aplastic anemia) or an increased degradation (it is the case of hemolytic anemias) or due to a loss of blood or for genetic defects that affect its quality ( sickle cell anemia and thalassemia).

Furthermore, the lack of vitamins (in particular vitamin B12 , vitamin C or folic acid ), minerals (such as iron ), certain intestinal disorders (including celiac disease ) and conditions such as abundant menstrual flows or chronic diseases expose more to the risk of anemia. Also, during pregnancy it is easier to experience iron deficiency anemia.

But, from the point of view of the manifestations , anemia can be initially asymptomatic, even if the persistence of the condition and the aggravation of the problem leads to the appearance of generic symptoms such as tiredness, pallor, tachycardia, increased respiratory rate, dizziness and headache .

Anemia can be diagnosed through a blood test. Treatment varies according to the underlying causes.

What is anemia

Anemia is a condition in which the number of red blood cells and the hematocrit and hemoglobin levels in the blood are not sufficient to guarantee oxygenation of peripheral tissues.

According to the diagnostic criteria currently in use, in men anemia is considered the condition in which the red blood cells are less than 4.5 million / μl (for women 4 million / μl ), the hematocrit is below 42% ( 37% in women ) and hemoglobin is less than 13.4 g / dL ( 12 g / dL for women ).

By hematocrit is meant the percentage of the unit volume of blood occupied by red blood cells.

But, before considering anemia and its possible treatments, it is necessary to identify the cause that generated it . In fact, in the absence of specific information on the etiological aspects of the disorder, it is only possible to temporarily restore a balance in the oxygenation capacity of the tissues.

anemia Symptoms

Symptoms

Initially, anemia can be asymptomatic , but with the passage of time and the persistent condition of poor oxygenation of the cells, nuanced and unspecific symptoms such as:

  • tiredness : the scarce availability of oxygen removes oxidiser from the cells, which thus encounter difficulties in carrying out common metabolic reactions
  • pallor : poor oxygenation of the skin and subcutaneous tissue determines the pallor of the skin and mucous membranes, including conjunctival pallor; especially the latter sign has been used as a diagnostic criterion in the past
  • alteration of the heart rhythm : to supply the same amount of oxygen to the tissues in conditions of reduced concentration, an increase in the number of heartbeats per unit of time (tachycardia) is required; the pulse is weak and fast
  • increased respiratory rate : the organism enters respiratory conditions (tachypnea) in an attempt to compensate for poor oxygenation of the blood; in severe forms of anemia the patient may have real breathing difficulties (dyspnoea)
  • dizziness, fainting and cognitive disturbances : these symptoms are caused by reduced oxygenation of the brain; in elderly subjects cognitive disturbances occur more frequently than in the young population and are sometimes confused with dementia
  • cold extremities
  • pronounced sweating
  • cramps in the lower limbs: appear in cases of severe anemia
  • headache .

In addition, there are symptoms that can play an indicative role in the cause of anemia , such as:

  • presence of blood in the urine or stool (which can be a sign of kidney bleeding, urinary tract or gastrointestinal tract)
  • jaundice (condition in which the skin and mucous membranes turn yellow, indicating an increase in the destruction of red blood cells)
  • paraesthesia (tingling may be a sign of vitamin B12 deficiency).

Epidemiology: spread of anemia in the world

Anemia is the most common blood disorder, affecting at least a quarter of the world population. The World Health Organization estimates one billion and 600 million people globally affected by this condition.

Who is most at risk

The people most exposed to the risk of anemia are the subjects:

  • affected by vitamin deficiencies : vitamins B12 and B9 (also known as folic acid ) are essential for the development of red blood cells; the lack of these substances causes the production of red blood cells larger than normal, inadequate for the correct carrying out of the gaseous exchanges at lung and peripheral tissues and, therefore, are the cause of anemia; the lack of vitamin C determines a reduced ability to absorb iron in the intestine and can therefore contribute to the onset of anemia
  • suffering from iron deficiencies : oxygen is transported in the blood bound to iron atoms within the hemoglobin molecule ; if the levels of this element are not sufficient, the quantity of oxygen that the hemoglobin can carry automatically is automatically reduced
  • with intestinal disorders : intestinal diseases that cause alterations of the mucosa can cause a reduction in the absorption capacity of iron and of the vitamins essential to guarantee, in the final analysis, a correct oxygenation of the blood; among these pathologies, also chronic inflammatory diseases ( MICI , which include Crohn’s disease and ulcerative colitis ), diverticulosis , colon or stomach cancer and celiac disease
  • with very abundant menstruation : all causes of bleeding can represent risk factors for anemia
  • undergoing surgery: in these cases, however, these are transient forms of anemia
  • affected by chronic diseases : chronic diseases such as liver or kidney failure can, in the long run, lead to anemia
  • with anemic relatives : some forms of anemia recognize hereditary transmissibility
  • in pregnancy : being a condition in which the demand for iron by the tissues is increased, gestation increases the risk of iron deficiency anemia.

Spread

Worldwide, anemia is a critical health problem for children: in fact, it is estimated that more than 40% of children under the age of 4 suffer from it.

Africa is the continent that produces the largest numbers : the percentage of anemics in the general population ranges between 47.5 and 67.7%. Instead, in Asia, the highest absolute number of anemic patients (315 million).

The reasons for the spread are mainly related to malnutrition : evidence is that the most common forms of anemia are those due to vitamin deficiency or iron deficiency.

In particular, iron deficiency anemia affects all age groups, mainly children, adolescents, women of childbearing age, pregnant and breastfeeding. It affects 9% of the world’s population and prevails in women over men.

Instead, Mediterranean anemia is a form of hereditary anemia mainly concentrated in the Mediterranean basin.

The anemia of vitamin deficiency are more common in the Nordic countries and more common in the elderly, with a ratio of 1: 8000 compared to the general population. In particular , pernicious anemia , a type of vitamin B12 deficiency anemia, affects 0.1% of the total population and 1.9% of subjects over 60 years of age , representing 20-50% of cases of Vitamin B12 deficiency in adults, particularly in the 40 to 70 age group.

Causes of anemia

Causes of anemia

Anemia can generally be due to conspicuous bleeding , insufficient red blood cell production or excessive destruction. Hence, microscopic observation of a blood sample can help trace the cause of anemia based on the numerical and morphological evaluation of red blood cells.

The blood loss is an occurrence that can occur suddenly, as in the case of trauma or during surgery ( acute hemorrhage ) or in a continuous way, gradual and repetitive ( chronic hemorrhage ). Therefore, chronic bleeding is mainly caused by abnormalities of the digestive tract or urinary tract or by abundant menstrual cycles.

Red blood cell production

The inadequate number of red blood cells can be explained by the reduced erythropoiesis , i.e. the production of red blood cells, a process that occurs mainly in the bone marrow.

In order for erythropoiesis to occur satisfactorily, fundamental elements are needed such as:

  • vitamin B12 and B9 ( folic acid )
  • copper (in traces: copper is in fact classified as a trace element )
  • hormonal factors such as erythropoietin, a protein that stimulates the production of these cells.

The decrease in erythropoiesis may be attributable to chronic diseases, tumors of the bone marrow (leukemias and lymphomas or metastases of tumors that have developed primarily elsewhere).

reticulocytopenia

Instead, scarce erythropoiesis anemias are characterized by reticulocytopenia , i.e. low levels of reticulocytes , intermediate cells in the process of maturation of red blood cells, the number of which represents a good indicator of the ability of the bone marrow to produce these cells.

When erythropoiesis is insufficient but not yet such as to determine a significant reduction in the number of erythrocytes produced, it still causes an alteration in their size and shape.

Hemolysis

hemolysis (destruction of red blood cells) is excessive due to a shortening of their average life, which corresponds physiologically to about 120 days.

Therefore, the specific phagocytic cells present in the bone marrow, spleen and liver recognize the red blood cells that have reached the end of their life cycle and destroy them. If red blood cells are destroyed prematurely ( hemolysis ), the bone marrow activates in an attempt to compensate for losses by rapidly producing new cells.

When destruction is faster than production, hemolytic anemia occurs .

However, this is a relatively rare pathological occurrence, which can be caused by intrinsic anomalies of the erythrocytes or extrinsic factors, such as the presence on their surface of molecules that activate early the destructive activity of phagocytes.

In addition, conditions such as splenomegaly (increase in spleen volume) may involve the seizure and destruction of more red blood cells in the unit of time than normal.

Anemia: some remarks on the physiology of red blood cells

Anemia: some remarks on the physiology of red blood cells

Red blood cells are nucleus-free cells produced in the bone marrow through a process called erythropoiesis, controlled by the erythropoietin hormone. Erythropoiesis requires the presence of substances such as vitamin B9 (folic acid), vitamin B12, iron and copper.

Erythropoietin is secreted by kidney glomerulus cells based on two stimuli. The first is represented by the saturation of oxygen in the blood , which the glomerular cells record by acting as sensors. Instead, the latter from the increase in the levels of androgenic hormones (testosterone) produced.

Oxygen in the blood

For example, in the case of anemia, the glomerular cells read a decrease in the concentration of oxygen in the blood and stimulate the secretion of erythropoietin, which promotes the production of red blood cells in order to restore a balance in the saturation of oxygen in the blood.

Almost all of the oxygen carried in the blood is linked (with reversible interactions) to hemoglobin , a protein that binds a chemical group called heme. In particular, oxygen combines with the Fe²⁺ ion contained in the heme.

The peripheral tissues use oxygen as oxidizing to carry out metabolic reactions, producing carbon dioxide as a waste product. This gas spreads to the capillaries, where it binds to hemoglobin, replacing oxygen, which in turn is released to local cells.

In the pulmonary alveoli , carbon dioxide is released, emitted with the exhaled air and replaced by the oxygen introduced with the inspired air.

Hence, the genetic mutations responsible for quantitative defects of the hemoglobin chains are associated with thalassemia .

Altered shape of red blood cells

The red blood cells have a biconcave disc shape , which gives them characteristics of elasticity and deformability that allow them to slide even in the smaller caliber vessels.

But, the alterations in the form of red blood cells penalize the possibility of accessing the capillaries.

This is the case of sickle cell anemia , caused by a genetic mutation that causes the erythrocytes to take on the characteristic sickle shape (hence the name of the disease).

itero

The red blood cells have an average life of about 120 days , after which they are degraded by the phagocytes present in the cells of the spleen, liver and bone marrow. Degradation of hemoglobin in the liver leads to the formation of a potentially toxic intermediate, bilirubin , a yellow pigment which is eliminated through bile in the stool.

The pathological conditions that involve a reduction of liver function may result in a slowdown in the conjugation of bilirubin, so that it remains in the body, depositing in the skin and in the mucous membranes, which thus assume a characteristic yellowish color . This condition is called jaundice .

Anemia and alteration of the blood count

CBC is the laboratory procedure that consists in studying the cellular (red blood cell, white blood cell and platelet count) and molecular (hemoglobin concentration) elements of the blood.

The normal levels for the blood count parameters are:

  • white blood cells (4,000-10,000 / mm³): include lymphocytes (1,500-5,000 / mm³), monocytes (100-900 / mm³), neutrophils (2,000-8,000 / mm³), eosinophils (20-600 / mm³), basophils (2 -150 / mm³)
  • red blood cells (4.5-6 million / mm³ in men; 4-5.5 in women): below 4.5 million / mm³ for men and 4 million for women, a diagnosis of anemia can be assumed
  • hemoglobin (13.5-18 g / dL in men; 12-16 in women): conditions in which the concentration of hemoglobin is less than 13.4 for men and 12 for women fall within the definition of anemia
  • hematocrit (37-47%): it is the percentage of blood composed of cells (the remaining part is made up of the liquid component of the blood, the serum); hematocrit frameworks lower than 42% for men and 37% for women can refer to forms of anemia
  • average corpuscular volume (MCV 80-95 femtoliters): it is the diameter of the red blood cells; in megaloblastic anemias this value can be between 100 and 150 femtoliters; the average corpuscular volume is lower than normal in the case of iron deficiency anemia
  • average corpuscular hemoglobin (MCH 26-32 picograms): it is the quantity of hemoglobin present in each red blood cell
  • average corpuscular hemoglobin concentration (MCHC 32-36%): average hemoglobin concentration in a unit volume of red blood cells
  • dispersion amplitude of red blood cells (11.5-14.5%): amplitude of the distribution of the volume of red blood cells around the average value
  • platelets (150,000-450,000 / μL)
  • total proteins (6.4-8.3g / dL).

Iron absorption

The mechanisms of absorption of iron from ingested foods are strategic in determining the quantity of this element available to the tissues. In fact, there are no efficient iron elimination mechanisms.

This element is absorbed by food in the first part of the small intestine , but not all the iron present in food is absorbable with the same efficiency.

First of all, the passage of iron from the intestinal lumen to the blood circulation occurs proportionally to the number of calories associated with the food introduced . Secondly, the best absorbable iron (20-40%) is the one linked to a heme group, that is, the one present in the meat .

The absorption from cereals and vegetables is less than 5% , although it can increase according to the presence of meat or organic acids (typical those of citrus fruits) in the meal. Furthermore, some of the substances most commonly contained in plants, such as tannins and polyphenols, inhibit the absorption of iron.

Therefore, all conditions in which the intestinal mucosa is damaged (such as chronic inflammatory diseases, celiac disease, colon cancer) put the passage of iron in the capillary blood at risk .

Furthermore, the amount of iron that actually passes into the blood is not equal to that which enters the intestinal cells. In fact, a portion of this remains trapped in the form of ferritin , a substance that represents a sort of iron deposit for the body.

What types of anemia there are

There are several forms of anemia , each caused by different factors. These types also differ in the chronicity characteristics more or less present and in the characteristics of the disease.

Below is a classification based on the underlying cause.

1 – Mediterranean anemia

Mediterranean anemia is caused by a mutation of the genes that code for the production of one of the two proteins that make up hemoglobin, the means of transporting oxygen in the blood.

The beta-thalassemia , specifically, is caused by the alteration of the composition of the hemoglobin beta chain.

Mediterranean anemia is a widespread hereditary disease, especially in areas bordering the Mediterranean basin. In Italy, the highest incidence is found in Sardinia.

There are two forms of thalassemia : a less severe one ( thalassemia minor ), in which the patient is asymptomatic or paucisymptomatic, and a more serious one ( thalassemia major or Cooley Anemia ) in which the symptoms are more impacting and occur from the neonatal period.

The first is linked to a mutation that affects only one of the two alleles that code for the beta chain, while the second both. In the latter case, red blood cells undergo accelerated destruction.

The newborn can suffer from jaundice (due to the accumulation of bilirubin) and poor growth and, after the first two years of life, shows signs of severe anemia:

  • weakness
  • pallor
  • deformity of facial bones (due to bone marrow involvement)
  • growth retardation
  • abdominal swelling
  • enlarged spleen ( splenomegaly ).

The major form requires blood transfusions to be performed .

Mediterranean anemia is a form of microcytic anemia , in which red blood cells fail to develop to achieve the physiological dimension.

2 – Sickle cell anemia

Sickle cell anemia (also called sickle cell anemia or sickle cell anemia) is a condition caused by the mutation of a gene that controls the production of hemoglobin .

It’s about a autosomal recessive genetic and hereditary blood disorder . Therefore it is necessary (even if not sufficient) that both parents are carriers of the disease to transmit the defect to the child.

Due to the characteristic sickle shape assumed by red blood cells, these cells are unable to pass into the blood vessels of lesser caliber, they stiffen and their tendency to aggregate increases. The main consequence is represented by diffuse ischemias due to insufficient blood supply that occur in peripheral tissues when abnormal red blood cells accumulate there without flowing. When the state of ischemia continues, necrosis takes place in the affected cells, which determines its death.

Symptoms of sickle cell anemia

The symptoms of sickle cell disease typically occur after four months of life and include:

  • Anemia : the greater fragility of defective red blood cells reduces their average life drastically, bringing it from physiological 120 days to 10-20 days; the anemic patient manifests fatigue, weakness, shortness of breath, pallor, headache and visual difficulties.
  • Painful crises : the patient is affected by a crisis of pain localized in the chest, abdomen and joints, which arise suddenly and have a variable duration due to the occlusions of the blood vessels. Pain can be felt in the chest, abdomen, joints.
  • Hand-foot syndrome : it is one of the first signs of anemia in young children and is characterized by swelling that affects the hands and feet.
  • Frequent infections : the spleen, damaged by the accumulation of abnormal red blood cells, is no longer able to support its immune function.
  • Growth retardation : tissue spraying defects imply growth retardation.
  • Jaundice : defective red blood cells undergo accelerated destruction, which can cause accumulation of bilirubin , which derives from the degradation of hemoglobin, in the skin and mucous membranes, which take on the characteristic yellowish color.

Furthermore, there is a correlation between sickle cell anemia and malaria : the particular shape of the red blood cell protects this cell from plasmodium infection. For this reason, the inhabitants of the areas in which this disease is widespread appear immune to malarial infection.

3 – Vitamin deficiency anemia

Vitamin deficiency anemia is a reduced production of red blood cells caused by a vitamin deficiency . The vitamins involved are vitamin B12 , folic acid (vitamin B9) and vitamin C ( ascorbic acid).

The mature red blood cells are larger than normal (it is a megaloblastic anemia) and few in number, because most of them are destroyed immediately after production in the hematopoietic marrow.

Vitamin B12

anemia of vitamin B12 deficiency (also known as pernicious anemia ) is linked to a poor absorption of this vitamin from ll’alimentazione.

But, in most cases it is due to the lack of the intrinsic factor , a protein produced by the gastric mucosa that allows the absorption of the vitamin from food during digestion. In addition, in 90% of cases the absence of the intrinsic factor is caused by an autoimmune reaction, in the context of a disease called autoimmune or type A atrophic gastritis .

One of the characteristic manifestations of B12 deficiency anemia is represented by glossitis : the tongue appears smooth and reddened along the edges and at the tip and the perception of flavors is altered.

Folic acid

anemia by folic acid deficiency is generally associated with poor nutrition of this vitamin. People on dialysis and women who are pregnant or breastfeeding have an increased demand for folic acid, which must be taken with food supplements . Folate deficiency during pregnancy can affect the development and growth of the fetus and cause malformations of the neural tube ( spina bifida ).

alcohol abuse and the assumption of drugs proton pump inhibitors (typically employed in the treatment of ulcer and gastroesophageal reflux) can interfere with the absorption of folic acid.

Intestinal diseases

Chronic intestinal diseases (such as ulcerative colitis and Crohn’s disease ) and celiac disease , pathologies involving changes in the absorption capacity of intestinal villi, can also be the basis of this form of anemia, as well as intestinal bypass.

The symptoms of folate deficiency anemia are broadly similar to the general anemia: asthenia, pallor, headache, insomnia, increased respiratory rate, dyspnoea, dizziness, arrhythmias, mental confusion.

4 – Iron deficiency anemia

The ‘ iron deficiency anemia (also called anemia iron deficiency or martial anemia ) is due to iron deficiency and is the most common type of anemia. Generally it is secondary to a blood loss, occult and chronic (as in the case of a tumor or an ulcer) or acute, due to a trauma or surgery.

But, other causes may be represented by a poor dietary intake (frequently occurs in conjunction with very drastic diets or associated with eating disorders ) and problems in iron absorption (for intestinal diseases or intestinal bypass surgery) .

The lack of adequate iron levels penalizes the transport of oxygen in the blood causing tiredness, increased respiratory rate and pallor.

Who hits

Iron deficiency anemia can affect individuals of all age groups. However, it is most common in:

  • children
  • teenagers
  • women of childbearing age (due to blood loss associated with the menstrual cycle).
  • pregnancy and lactation (due to increased iron consumption).

Symptoms and prevention

Initially the symptoms are mild and very nuanced, because the organism obtains its supplies of iron deposits present in the form of ferritin. When the deficiency continues, the symptoms intensify and asthenia, pallor, headache, increased respiratory rate, mental confusion and dizziness, nail fragility, alopecia, tachycardia can occur .

Prevention passes through a varied diet , which includes iron-rich foods such as red meat, green leafy vegetables, dried fruit, chicken, seafood, legumes . In addition, it is important that an adequate amount of foods that are high in vitamin C are present in the diet . Just the acidity produced by this vitamin (which, we remember, is chemically an acid, ascorbic acid ), as detailed in the previous paragraphs, improves the absorption of iron.

iron-deficiency anemia is a form of microcytic anemia , ie in which the erythrocytes fail to develop to reach their physiological dimensions.

5 – Autoimmune hemolytic anemia

autoimmune hemolytic anemia comprises a group of disorders characterized by an alteration in the function of the immune system, with production of antibodies directed against red blood cells , which are attacked and destroyed by mistake.

This form of anemia can appear at any age and is more common in the female population.

If the disease occurs slightly , the affected person may also be asymptomatic . People with the intermediate form experience symptoms such as fatigue, wheezing and pallor . In addition, the severe form includes jaundice (due to the accumulation of the metabolite of hemoglobin , bilirubin , in the skin and mucous membranes) and abdominal swelling, caused by splenomegaly (the spleen becomes hypertrophic because it must face an increased activity of elimination of erythrocytes).

Diagnosis can be made based on the results of blood tests.

The treatment of autoimmune hemolytic anemia involves the use of corticosteroids or other drugs that suppress the immune system . In more serious cases, it is possible to intervene by surgically removing the spleen ( splenectomy ).

6 – Aplastic anemia

The bone marrow dysplasia is a condition in which the bone marrow bone deputy to the production of blood cells ( red bone marrow ) is corrupted ( hypoplasia ) or destroyed ( aplasia ) and which results in a reduction in the production of red blood cells, but also of white blood cells and platelets. Most of the time, it is the continuous and prolonged destruction of blood cells that puts the hematopoietic marrow under extraordinary strain, aimed at their replacement. This effort, prolonged over time, exhausts the medullary function of erythropoiesis ( medullary insufficiency ).

Aplastic anemia is a condition in which the bone marrow production of blood cells is completely suppressed. The cases in which only the production of red blood cells is suppressed are defined as pure red cell aplasia .

Aplastic anemia is more common in young people .

Sometimes, it is possible to identify the cause , which can be represented by viral infections (from Parvovirus, from Epstein Barr virus, from cytomegalovirus), from exposure to ionizing radiation , contact with toxins (such as some organic solvents), drugs (such as chloramphenicol), from physiological conditions such as pregnancy or pathological conditions such as hepatitis .

Course and diagnosis

aplastic anemia develops over the years and is highlighted by generic and symptoms common to all forms of anemia (such as paleness, weakness, state of fatigue) and the reduction in the number of blood cells, ie leukopenia (the low number of white blood cells leads to an increased risk of infection), thrombocytopenia (a decrease in the platelet count causes the formation of hematomas, petechiae and increases the ease of bleeding).

The diagnosis involves performing a blood test (with blood count and reticulocyte count , the precursors of red blood cells) and a bone marrow examination (the bone marrow biopsy , with microscopic observation of the reduction in the number of blood cells).

Bone marrow transplant

In young patients, hematopoietic stem cell transplantation (what is commonly called bone marrow transplantation ) can be indicated, which definitively heals the disease. When transplantation is not feasible, equine antithymocytic globulin and cyclosporine are used to inhibit the autoimmune reaction and allow the bone marrow to regenerate. Response to treatment occurs in 60-80% of cases.

Transfusions of red blood cells, platelets and growth factors are administered only when strictly necessary.

In 50% of cases, aplastic anemia is defined as idiopathic (ie without recognized cause): the most reliable explanation of these forms relates the pathology in relation to autoimmunity responses .

Often one of the factors that occur simultaneously with aplastic anemia is clonal hematopoiesis , that is, the production of individual clones of blood cells, a condition that increases the risk of evolution of aplastic anemia towards myeloma .

Aplastic anemia is a form of normocytic anemia , i.e. accompanied by physiologically sized red blood cells, and normochromic indices , i.e. with hemoglobin concentrations within the normal range.

7 – Fanconi anemia

Fanconi anemia is linked to genetic mutations that cause alterations in the mechanisms of DNA repair and stabilization of the genetic code.

The manifestations of Fanconi anemia are:

  • progressive pancytopenia , i.e. reduction in the number of all blood cells
  • bone marrow failure, the effects of which may appear at different stages of life
  • congenital malformations that can affect the skin, the skeleton and various systems, growth defects, microcephaly and microphthalmia;
  • predisposition to tumor development
  • impaired fertility .

It is a hereditary disease transmitted as an autosomal recessive trait, which can be diagnosed through a genetic test.

Fanconi anemia is treated with the execution of red blood cell transfusions or platelets , but can only be cured permanently with the bone marrow transplant . One of the possible consequences of this treatment, however, is represented by an increased risk of tumor development.

Hematopoietic growth factors and androgenic hormones , which stimulate the production and development of red blood cells, can also be administered .

Anemia in pregnancy

Being a condition in which the demand for iron from the tissues is increased, pregnancy increases the risk of iron deficiency anemia.

A phenomenon that continues throughout the breastfeeding period.

The action of hormones secreted during this period (especially estrogens ) stimulates the production of new red blood cells ( erythroid hyperplasia of the hematopoietic bone marrow ). But the simultaneous increase in the volume of circulating blood still involves a dilution of its components. A phenomenon that produces an altered blood count compared to female physiology, with hematocrit (normally between 37 and 47%) that also drops to 30% and hemoglobin (normally between 12 and 16) below 10 g / dL

This picture increases the chance of an iron deficiency and folate deficiency anemia , particularly in the third trimester of pregnancy . The symptoms are the generic ones of all forms of anemia: tiredness, weakness, dizziness, tingling in the extremities, pallor.

Risks for mom and fetus

When it appears in serious form and is not treated with the integration of iron and folate , it can increase the risk of premature birth and maternal infections in the period immediately following birth. The transfusions are performed only in serious cases, assessed not on the basis of the hematocrit value, but rather a function of the woman’s symptoms.

The folate deficiencies during pregnancy should be prevented with the administration of supplements ( folic acid ) because they increase the incidence of closing of neural tube defects , conditions that can lead to serious malformations of the central nervous system, such as spina bifida.

sickle cell anemia , when compatible with pregnancy, however, it involves an increase in exposure to infection of the mother and the risk of hypertension onset of pregnancy, heart failure and other cardiovascular disorders, fetal growth retardation, premature birth and low birth weight . Hence, pregnancy requires greater attention in the administration of drugs used to manage symptoms, in particular painful ones.

Sickle cell anemia and Mediterranean anemia are hereditary diseases that can be passed on to the fetus. Therefore, people who have cases in the family or who have been diagnosed for one of these pathologies (even in minor forms, such as thalassemia minor) can ask for a genetic consultation in order to evaluate the possibility of pregnancy.

How anemia is treated

The diagnosis of anemia is performed downstream of a blood test (with a blood count evaluation) and through the observation of a blood sample under a microscope.

The therapeutic approach to anemias depends on the form that has been diagnosed and its severity. In anemias linked to vitamin or iron deficiencies, the diet correction approach is the one that has the greatest impact on the symptoms.

In other cases, drug therapy or medical (transfusion) or even surgical (bone marrow transplant) treatment should be instituted.

Medical-surgical treatments

The red blood cell transfusions are carried out when the hemoglobin drops to dangerously low levels, variables in different subjects, also in function of the general symptoms and the possible presence of other diseases.

In general, erythrocyte transfusions should be reserved for patients with cardiovascular or pulmonary diseases (such as chronic progressive bronchopneumopathy), affected by difficult-to-control hemorrhage or organ ischemia, for example due to interruption of blood flow.

Hematopoietic stem cell transplantation ( bone marrow transplantation ) can be performed in anemias due to bone marrow failure or sickle cells. However, this is a treatment that is generally reserved for younger patients .

Gene therapy is also being tested for the treatment of sickle cell and Mediterranean anemia. It is an approach that allows the correction of the mutated gene and therefore the solution of the underlying disease. A very promising prospect , but so far used for the treatment of diseases affecting patient niches. If patient outcomes seem to push optimism, economic sustainability aspects need to be managed.

Anemia and nutrition: what to eat with a view to prevention

If many types of anemia are not preventable with lifestyle, in some cases it is possible to intervene on the disease or prevent it with a diet rich in vitamins (B12, B9 and C) and iron .

Check out the top ten of iron-rich foods .

In fact, folic acid deficiency anemia requires a greater presence on the table of vegetables (citrus fruits, bananas, dark green leafy vegetables, legumes), cereals, dairy products (milk and yogurt), red and white meats and shellfish .

In pregnancy and lactation, folate deficiency is preventable, taking the opinion of the gynecologist, by taking supplements .

The vitamin B12 deficiencies can be corrected by increasing the component of meat, eggs, dairy products and cereals in the diet.

Find out all about vitamin B12 : properties, benefits and foods that contain it.

In addition, fundamental, especially in iron deficiency anemia , the intake of vitamin C from the diet, which increases the share of iron absorbed and is found in citrus fruits, fruits and vegetables of bright color (peppers, tomatoes, kiwis), in berries, in broccoli .

The iron is hired by eating meat (food from which the absorption is increased because the iron is in the heme form, as detailed in the section dedicated to ‘ iron absorption), legumes, cereals, vegetables dark green leafy, nuts.

In addition, people suffering from deficiency anemia are advised to avoid smoking and alcohol abuse, elements that worsen the clinical picture in the sense of further reduction of blood oxygenation.

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