What are the different types of hereditary anemia. How do genetic factors influence the development of inherited anemia. What are the symptoms and complications associated with various forms of inherited anemia. How are different types of hereditary anemia diagnosed and treated.

The Genetic Basis of Inherited Anemia

Inherited anemia is a group of blood disorders that stem from genetic mutations passed down through families. Unlike acquired forms of anemia caused by nutritional deficiencies or other external factors, hereditary anemia results from inherent DNA alterations that affect red blood cell production, structure, or function.

These genetic abnormalities can impact various aspects of red blood cell biology, including:

• Hemoglobin synthesis
• Red blood cell shape and stability
• Bone marrow function
• Vitamin B12 metabolism
• Blood clotting processes

Understanding the genetic basis of inherited anemia is crucial for proper diagnosis, treatment, and genetic counseling. Let’s explore some of the most common types of hereditary anemia and their underlying genetic causes.

Sickle Cell Anemia: A Hemoglobin Disorder

Sickle cell anemia is one of the most well-known inherited blood disorders. It results from a mutation in the HBB gene, which provides instructions for making beta-globin, a component of hemoglobin. This genetic alteration causes the production of abnormal hemoglobin, leading to the characteristic sickle shape of red blood cells.

Key Features of Sickle Cell Anemia

• Predominant in African-American, Hispanic, Indian, and Mediterranean populations
• Causes painful episodes called crises
• Increases risk of stroke and heart attack
• May lead to swelling in hands and feet
• Compromises immune function

How does sickle cell anemia affect daily life? Individuals with this condition often experience chronic pain, fatigue, and increased susceptibility to infections. Management typically involves pain control, hydration, and sometimes blood transfusions or hydroxyurea therapy to reduce the frequency of painful crises.

Thalassemia: Impaired Hemoglobin Production

Thalassemia is another inherited anemia caused by mutations affecting hemoglobin production. Unlike sickle cell anemia, which alters hemoglobin structure, thalassemia results in reduced or absent production of specific hemoglobin chains.

Thalassemia Severity Spectrum

The severity of thalassemia can vary widely, ranging from mild to life-threatening:

1. Mild thalassemia: Often asymptomatic or causing only slight fatigue
2. Moderate thalassemia: May lead to anemia symptoms and complications like enlarged spleen
3. Severe thalassemia: Can cause fetal death or significant health issues from birth

What determines the severity of thalassemia? The specific genes affected and the extent of the mutation play crucial roles in determining the severity of thalassemia. Alpha-thalassemia results from mutations in the alpha-globin genes, while beta-thalassemia stems from alterations in the beta-globin genes.

Congenital Pernicious Anemia: A Rare Vitamin B12 Deficiency

Congenital pernicious anemia is an uncommon inherited disorder characterized by the inability to produce intrinsic factor, a protein essential for vitamin B12 absorption. This condition leads to vitamin B12 deficiency, impacting red blood cell production and potentially causing neurological complications.

Symptoms and Complications

• Fatigue and weakness
• Shortness of breath
• Neurological symptoms (e.g., numbness, tingling)
• Memory loss
• Enlarged liver

How is congenital pernicious anemia treated? The primary treatment involves lifelong vitamin B12 supplementation, typically administered through injections or high-dose oral supplements. Regular monitoring of vitamin B12 levels and symptoms is crucial for managing this condition effectively.

Fanconi Anemia: A Complex Bone Marrow Disorder

Fanconi anemia is a rare inherited disorder affecting the bone marrow’s ability to produce sufficient blood cells. This condition results from mutations in genes responsible for DNA repair, leading to genomic instability and impaired hematopoiesis.

Multisystem Impact of Fanconi Anemia

Fanconi anemia can affect multiple organ systems, causing:

• Bone marrow failure
• Increased risk of leukemia and other cancers
• Congenital abnormalities (e.g., skeletal defects, kidney problems)
• Growth retardation
• Skin pigmentation changes

What are the treatment options for Fanconi anemia? Management often involves supportive care, including blood transfusions and growth factors. In severe cases, hematopoietic stem cell transplantation may be necessary. Ongoing cancer surveillance is crucial due to the increased risk of malignancies.

Hereditary Spherocytosis: Fragile Red Blood Cells

Hereditary spherocytosis is characterized by the production of abnormally shaped, spherical red blood cells. These cells, known as spherocytes, are more fragile than normal red blood cells and are prone to premature destruction in the spleen.

Clinical Manifestations

• Mild to moderate anemia
• Jaundice
• Splenomegaly (enlarged spleen)
• Gallstones
• Increased susceptibility to infections

How does hereditary spherocytosis affect lifespan? While hereditary spherocytosis can cause chronic anemia and other complications, with proper management, most individuals with this condition have a normal life expectancy. Treatment may involve splenectomy in severe cases, folic acid supplementation, and monitoring for complications.

Thrombotic Thrombocytopenic Purpura (TTP): A Rare Blood Clotting Disorder

Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder characterized by the formation of small blood clots throughout the body. While TTP can be acquired, some forms are inherited due to mutations in the ADAMTS13 gene, which regulates blood clotting.

Symptoms and Complications of TTP

• Hemolytic anemia
• Thrombocytopenia (low platelet count)
• Neurological symptoms (e.g., confusion, seizures)
• Kidney dysfunction
• Fever

What is the prognosis for inherited TTP? The prognosis for inherited TTP has improved significantly with advances in treatment. Early diagnosis and prompt initiation of plasma exchange therapy, along with immunosuppressive medications in some cases, can lead to successful management of the condition.

Diagnosis and Management of Inherited Anemia

Diagnosing inherited anemia often involves a combination of clinical evaluation, family history assessment, and genetic testing. The diagnostic process may include:

1. Complete blood count (CBC) to assess blood cell levels
2. Peripheral blood smear to examine blood cell morphology
3. Hemoglobin electrophoresis to detect abnormal hemoglobin variants
4. Genetic testing to identify specific mutations
5. Bone marrow biopsy in some cases

Management strategies for inherited anemia vary depending on the specific type and severity of the condition. Common approaches include:

• Regular monitoring of blood counts and organ function
• Nutritional supplementation (e.g., folic acid, vitamin B12)
• Blood transfusions
• Chelation therapy to manage iron overload
• Medications to stimulate red blood cell production
• Hematopoietic stem cell transplantation in severe cases
• Genetic counseling for family planning

How can individuals with inherited anemia improve their quality of life? While many forms of inherited anemia require lifelong management, adopting a healthy lifestyle, adhering to treatment plans, and staying informed about advances in therapy can significantly improve outcomes and quality of life for affected individuals.

Emerging Therapies and Future Directions

Research in the field of inherited anemia continues to advance, with promising developments in gene therapy and targeted molecular treatments. Some areas of ongoing investigation include:

• CRISPR-Cas9 gene editing for sickle cell disease and beta-thalassemia
• Novel small molecule therapies to enhance fetal hemoglobin production
• Improved bone marrow transplantation techniques
• Development of artificial blood substitutes

These emerging therapies hold the potential to revolutionize the treatment of inherited anemia, potentially offering curative options for previously chronic conditions.

Genetic Counseling and Family Planning

For individuals with inherited anemia or those with a family history of these conditions, genetic counseling plays a crucial role in family planning and decision-making. Genetic counselors can provide:

• Information about inheritance patterns and recurrence risks
• Discussion of prenatal testing options
• Guidance on preimplantation genetic diagnosis for in vitro fertilization
• Support in navigating the emotional and ethical aspects of genetic testing

What factors should couples consider when planning a family with a history of inherited anemia? Couples should weigh the potential risks, available testing options, and personal values when making decisions about family planning. Open communication with healthcare providers and genetic counselors can help inform these important choices.

Psychosocial Impact and Support

Living with inherited anemia can have significant psychosocial implications for affected individuals and their families. Common challenges may include:

• Chronic pain and fatigue
• Disruptions to education and employment
• Financial strain due to ongoing medical care
• Emotional stress and anxiety
• Social isolation

Support groups, counseling services, and patient advocacy organizations can provide valuable resources and connections for those navigating life with inherited anemia. Engaging with these support systems can help individuals and families cope with the challenges of living with a chronic blood disorder.

Public Health Implications and Screening Programs

Inherited anemia presents significant public health challenges, particularly in regions where certain types are more prevalent. Public health initiatives focused on these conditions often include:

• Newborn screening programs for conditions like sickle cell disease
• Population-based carrier screening in high-risk communities
• Education and awareness campaigns
• Development of specialized treatment centers
• Research funding for improved diagnostics and therapies

How effective are newborn screening programs for inherited anemia? Newborn screening has proven highly effective in identifying infants with conditions like sickle cell disease, allowing for early intervention and improved outcomes. These programs have significantly reduced morbidity and mortality associated with inherited blood disorders.

Global Health Disparities

The burden of inherited anemia is not evenly distributed globally, with certain populations and regions disproportionately affected. Addressing these health disparities requires:

• Improved access to diagnostic testing in resource-limited settings
• Capacity building for healthcare providers in affected regions
• International collaborations for research and treatment protocols
• Addressing socioeconomic factors that impact health outcomes

Efforts to reduce global health disparities in inherited anemia care can significantly improve the lives of affected individuals worldwide and contribute to broader health equity goals.

Hereditary Anemia: Types of Anemia That Can be Inherited

Many people think of anemia as something that happens because of outside factors, like a poor diet, but in reality several types of anemia are related to glitches in genes, says Christal Murray, MD, a hematologist with Scott and White Hospital in Round Rock, Texas. “Some people inherit genes that, one way or another, cause problems with the blood,” Dr. Murray says.

Among the types of anemia that can be inherited are:

• Sickle-cell anemia. People with sickle-cell anemia have a gene that causes the blood protein hemoglobin to form abnormally. As a result, red blood cells are produced in a sickle shape. “This can cause painful episodes called crises, and even strokes and heart attacks,” Murray says. People with sickle-cell anemia may also experience swelling in the hands and feet and a reduced ability to fight infection. Sickle-cell anemia is most common in African-Americans, Murray says, but it also sometimes affects people of Hispanic, Indian, and Mediterranean descent.
• Thalassemia. Thalassemia occurs when your body is unable to produce enough hemoglobin, which functions to carry oxygen throughout the body. This condition is also caused by faulty genes. People with mild thalassemia often experience nothing more than the typical symptoms of anemia, such as tiredness, while those with a moderate or severe form may have an enlarged spleen, slowed growth, bone problems, and jaundice. “There are certain types severe enough that a fetus can die before it’s even born,” Murray says. Alternatively, “thalassemia can be slight enough that some people don’t find out they have the condition until they’re 50 or 60 when they have a mild anemia.”
• Congenital pernicious anemia. This rare type of anemia results when a person is born with an inability to produce intrinsic factor, a protein in the stomach that helps the body absorb vitamin B12. Without vitamin B12, the body cannot make enough healthy red blood cells, causing you to become anemic. The lack of vitamin B12 can lead to other complications, like nerve damage, memory loss, and an enlarged liver. Like other forms of pernicious anemia, this condition is usually treated with vitamin B12 supplements, which may need to be taken for a lifetime.
• Fanconi anemia. This type of anemia stems from an inherited blood disorder that prevents the bone marrow from producing an adequate supply of new blood cells for the body. Besides having the classic signs of anemia, such as fatigue and dizziness, some people with Fanconi anemia are also at greater risk for infection because their bodies don’t produce enough white blood cells to fight germs. Some patients are also at greater risk for acute myeloid leukemia, a type of blood cancer, because their bone marrow makes a large number of immature white blood cells, preventing the production of normal blood cells.
• Hereditary spherocytosis. This disease, which is usually passed from parent to child through the genes, is characterized by abnormal red blood cells called spherocytes that are thin and fragile. These cells cannot change shape to pass through certain organs as normal red blood cells do, so they stay in the spleen longer, where they are eventually destroyed. The destruction of the red blood cells causes anemia. Most people with hereditary spherocytosis have only mild anemia, but stresses on the body from infection can cause jaundice and even a temporary halt in the bone marrow’s production of blood cells.
• Thrombotic thrombocytopenic purpura. Known as TTP for short, this anemia-causing condition results from a certain faulty blood-clotting enzyme, leading to the clumping of platelets, which are blood cells that help heal wounds. When platelets clump together, fewer platelets are circulating throughout the body, so people with TTP can experience prolonged bleeding internally, externally, or under the skin. “It can result in anemia by affecting red blood cells once they get out of the bone marrow, causing breakages of those red blood cells in the blood,” Murray says. This is known as hemolytic anemia. TTP can be an acquired condition, meaning it develops later in life, but heritable forms of the disease also exist.

While there are steps many people can take to avoid anemia that is due to nutrient deficiencies or illnesses that can be cured, for those born with an anemia-based health condition, lifelong management is often a necessity.

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5 Types of Anemia that Are Genetic

Most cases of anemia are caused by dietary iron deficiency. But some forms of anemia are inheritable.

Anemia is a common health condition that can sometimes include relatively concerning symptoms. Feeling tired or short of breath are common symptoms associated with anemia.

If you’re wondering whether or not you have a form of anemia related to your genetics, talking with a family member can be a good start. If a close relative has a genetic type of anemia, you’re also more likely to inherit anemia.

But for most people, anemia is related to nutrient deficiencies — not genetics.

Most forms of anemia are not due to your genetics, but several different types of anemia can be inherited. In most cases, anemia related to your genetics is diagnosed at birth or identified at a young age due to the relatively severe impact it can have on your body.

Several types of anemia can be inherited. The treatment plan and severity of symptoms for these diseases vary. Generally, hereditary anemia symptoms show up in childhood.

Iron-refractory iron-deficiency anemia

There’s one particular case of iron-deficiency anemia caused by genetics.

This is known as iron-refractory iron-deficiency anemia, which results in an iron shortage in your body. For this type of anemia, taking an iron supplement or eating iron-rich foods will not increase your iron levels.

Iron-deficiency anemia doesn’t always result in noticeable symptoms. You may be diagnosed based purely on a laboratory result showing low iron and changes in your red blood cells.

If symptoms do occur, they can be numerous and vague, but there are some telltale signs and symptoms that usually include:

• fatigue
• pale skin
• generalized weakness
• shortness of breath
• dizziness
• feeling lightheaded
• heart palpitations
• inflamed or sore tongue
• cold hands and feet

Sickle cell anemia

Often affecting African Americans, sick cell anemia is the most commonly inherited blood disorder. Sickle cell anemia affects an important blood protein called hemoglobin.

As a result, your blood cells take on a crescent shape rather than their usual disc shape. The end result of this structural difference is that your red blood cells clump together more easily.

This can cause serious issues like stroke or eye problems, and the blood cells are destroyed much more rapidly than disc-shaped cells.

Thalassemia

Similar to sickle cell disease, thalassemia refers to a group of conditions that affect the hemoglobin protein in specific ways.

Certain thalassemia subtypes, like alpha and beta, are diagnosed based on how the hemoglobin protein is changed. This disorder is usually diagnosed in early childhood due to signs like slow growth or brittle bones.

Some thalassemia types are worse than others and can produce more severe symptoms or require more aggressive treatments.

Hereditary spherocytosis

Hereditary spherocytosis occurs when your red blood cells lose their disc shape, but the reason they lose their shape is different than in thalassemia and sickle cell disease.

Whereas sickle cell and thalassemia result from changes in hemoglobin, spherocytosis results from changes in various other red blood cell proteins like spectrin.

Glucose-6-phosphate dehydrogenase deficiency

Also abbreviated as G6PD deficiency, this disorder results from a missing enzyme that plays an important role in protecting your red blood cells from damage.

Without this enzyme, your red blood cells become susceptible to damage and excessive destruction.

Congenital bone marrow failure

As the name suggests, bone marrow failure occurs when your bone marrow fails to produce enough blood cells. Your bone marrow is where the majority of your blood cells are produced.

There are different types of bone marrow failure, like black-fan diamond and Fanconi, both of which can result in anemia.

Testing for anemia typically begins with a complete blood count and a microscopic examination of those cells. This shows the number and shape of red blood cells in addition to your hemoglobin levels.

If there are any unusual changes in the levels of either, then further testing is pursued.

Specific genetic tests for anemia can also be performed by analyzing cells taken from your:

• blood
• saliva
• mouth or cheek

An analysis of your DNA gathered from these cells can determine whether or not you carry a particular genetic trait that results in red blood cell changes. For example, a genetic test for sickle cell would test for a particular variation of hemoglobin known as hemoglobin S.

Treatment for anemia can range from dietary modifications to surgery. The specific treatment you may need depends on the type of anemia you live with.

Anemia caused by nutrient deficiencies is addressed by correcting the deficiency. This is typically performed by taking vitamin supplements or eating more foods rich in particular nutrients like vitamin B12 or iron.

In conditions like thalassemia and sickle cell disease, aggressive treatments may be needed for severe symptoms. These can include bone marrow transplants or blood transfusions. In some cases, your spleen may be surgically removed to prevent complications.

Anemia related to nutrient deficiencies can be relatively easy to correct. But if a certain type of anemia seems to run in the family, it can be harder to manage due to its relationship to your genetics.

Getting a genetic test for anemia is relatively simple and is the only way to determine whether or not you have an inherited form of anemia. In most cases, this will have already been performed in childhood.

Hereditary microspherocytic hemolytic anemia in children: a diagnostic algorithm for a typical and atypical course

• Hereditary microspherocytic hemolytic anemia in children: a diagnostic algorithm for a typical and atypical course

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Hereditary microspherocytic hemolytic anemia in children: diagnostic algorithm for typical and atypical course

Modern Pediatrics. Ukraine. (2022). 6(126): 82-87. doi 10.15574/SP.2022.126.82
Banadyga N. V.
Ternopil National Medical University named after I.Ya. Gorbachevsky, Ukraine
KNP “Ternopil City Children’s Communal Hospital”, Ukraine

For citation: Banadyha NV. (2022). Hereditary microspherocytosis in children: diagnostic algorithm of typical and atypical course. Modern Pediatrics. Ukraine. 6(126): 82-87. doi 10.15574/SP.2022.126.82.
Article received by the editors 29 . 07. 202 2 , accepted for publication 20 . 10 .202 2

Anemic syndrome in a child in the practice of a primary care physician is a common problem that requires a weighted differential diagnosis. Features of the course and difficulties in diagnosing hemolytic anemia require attention to key points. Hemolytic anemia is characterized by a reduction in the lifespan of erythrocytes, which is clinically manifested by jaundice due to indirect hyperbilirubinemia, splenomegaly, and skeletal deformities with a long course. Given the severity of the prognosis in hemolytic anemia, it is advisable to demonstrate certain practical nuances of managing such patients on specific clinical cases.
Clinical cases clearly demonstrate the need for a thorough family history and additional examination of siblings, parents in case of suspected hereditary microspherocytosis. Diagnostic criteria for hereditary hemolytic anemia are: jaundice (due to indirect hyperbilirubinemia), splenomegaly, anemia, reticulocytosis, similar cases in the family. A case is presented when hemolytic crises in a child were accompanied by a transient increase in hepatic transaminases in the absence of changes in ultrasound examination and negative markers of viral hepatitis.
Conclusions. The anemic syndrome established in a child in combination with reticulocytosis requires a targeted examination for the hemolytic genesis of anemia. At the same time, it should be remembered that in the case of an atypical course of hereditary microspherocytosis, the patient needs an in-depth examination and dynamic monitoring of the course of hemolytic anemia in order to prevent serious complications.
The study was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the children’s parents was obtained for the study.
The author declares no conflict of interest.
Key words: hereditary microspherocytosis, hemolysis, anemia, differential diagnosis.

LITERATURE

1. Banadiga NV. (2019). Anemic syndrome in children: a brief prism of pediatric and hematological problems. Current pediatrics. Ukraine. 8 (104): 24-32. https://doi.org/10.15574/SP.2019.104.24.

2. Gungor A, Yaralı N, Fettah A et al. (2018). Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr. 60(3):264-269. https://doi.org/10.24953/turkjped.2018.03.005; PMid:30511538

3 Rothman JA, Stevens JL, Gray FL et al. (2020, Nov). How I approach hereditary hemolytic anemia and splenectomy. Pediatric Blood & Cancer. 67: 11. https://doi.org/10.1002/pbc.28337; PMid:32391969

4. Papp ZE, Chincesan M, Horvath AM et al. (2019, Nov). Hereditary spherocytosis in the experience of two pediatric clinics from Targu Mures. Orv Hetil. 160(45): 1798-1803. https://doi.org/10.1556/650.2019.31345

5 Schrier SL. (2018, Feb). Microcytosis/Microcytic anemia. URL: https://uptodatefree.ir/topic.htm?path=microcytosis-microcytic-anemia.

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Anemia in children. Causes of occurrence

The term “Anemia” itself does not mean a specific diagnosis: it is a syndrome, a manifestation of the underlying disease.

Anemia is currently believed to affect about 25% (according to other sources – more than 30%) of the population worldwide. It is especially common in developing countries among children under 6–7 years of age and women of reproductive age. According to the World Health Organization, 42% of preschool children and 40% of women during pregnancy suffer from anemia worldwide.

Iron deficiency anemia is the most common in Russia. According to various sources, it is found in 6–40% of children.

As can be seen from these statistics, anemia in children is a very common condition, one of the most common hematological disorders. Symptoms depend on the cause, speed and degree of decrease in hemoglobin and erythrocyte levels, comorbidities. Some forms are life threatening. Others lead to a lag in mental, physical development.

Causes

The causes of anemia in children can be divided into three groups:

• insufficient production of erythrocytes
• enhanced destruction of erythrocytes (hemolysis)
• acute or chronic blood loss

Anemias are congenital (hereditary) and acquired, acute and chronic. There is no clear boundary between the acute and chronic course, the doctor focuses on how quickly the disorder developed and how long the symptoms persist.

The main reasons for the decrease in hemoglobin levels in childhood are presented in the table:

The most common iron deficiency anemia in children is about 90% of all anemias (in adults – about 80). The prevalence of iron deficiency anemia in children in Russia, according to various estimates, ranges from 6 to 40%. Possible reasons:

• Alimentary iron deficiency : with malnutrition, vegetarianism, anorexia.
• Increased iron requirement of the body : during intense physical activity and sports, during periods of rapid growth.

• Blood loss – acute or chronic.
• Impaired iron absorption : in celiac disease (sometimes anemia is the only manifestation), autoimmune atrophic gastritis, infection caused by Helicobacter pylori.
• Hereditary iron deficiency syndromes : iron refractory IDA (IRIDA – iron metabolism disorder due to a mutation in the TMPRSS6 gene), hypotransferrinemia, aceruloplasminemia, ferroportin disease, hemooxygenase deficiency, hereditary sideroblastic anemia.

Anemia in newborns may be caused by:

• Blood loss : bleeding from a torn umbilical cord, placenta, vessel previa.
• Intracranial hemorrhage and bleeding in internal organs.
• Hemorrhagic disease newborns – a bleeding disorder that begins to manifest itself in the first 24-72 hours of life. It is often caused by a lack of vitamin K.
• Hemolytic disease of the newborn due to maternal Rh incompatibility, AB0 immunization, or other causes.

Pathogenesis

Red blood cells – erythrocytes – are produced in the red bone marrow. Every day, 1% of their total number die and are removed from the bloodstream, and new ones take their place. In general terms, anemia is caused by an imbalance between the destruction and production of red blood cells. In reality, everything is much more complicated. The pathogenesis of anemia varies greatly depending on its underlying cause.

For example, in acute blood loss, the fluid that is in the tissues and cells enters the vessels to replace the volume of blood lost. The blood seems to be diluted, and the content of erythrocytes with hemoglobin drops, taking into account the fact that a certain amount of them is already lost due to bleeding. With iron deficiency, hemoglobin synthesis is disrupted, and with some genetic disorders, red blood cells turn out to be defective, cannot function adequately and are quickly destroyed.

Classification

There are several classifications of anemia. We discussed one of them above – depending on the causes of occurrence.

Another classification takes into account mean volume (MCV) and mean diameter erythrocytes (RBC):

In more detail, this classification is as follows:

Classification depending on color index (CPI) of blood , which shows the ratio between red blood cells and hemoglobin and the degree of saturation of red blood cells with hemoglobin:

• CP 0.85-1.05 – normochromic anemia
• CPU > 1.05 – hyperchromic
• CP < 0.85 - hypochromic

Also, anemia is classified depending on the number of reticulocytes – immature forms of erythrocytes (this indicator reflects how well the regeneration processes in the bone marrow proceed):

• reticulocyte count 15–50‰ – normoregenerative anemia
• over 50‰ – hyper-regenerative
• low content – hypo-regenerative

Symptoms

The clinical picture may vary depending on the reasons for the decrease in hemoglobin levels in the blood. One way or another, as a result, the cells of the body do not have enough oxygen, and this leads to the so-called anemic syndrome. The main signs of anemia in a child:

• Paleness is the main symptom. But it is not always possible to notice it, especially if it grows gradually. The easiest way to recognize this sign is to examine the mucous membrane of the mouth, the conjunctiva of the eyes, and nails.
• Shortness of breath – with the help of it the body tries to cope with oxygen starvation.
• Constant weakness , increased fatigue. The child becomes lethargic.

• Headaches, dizziness and tinnitus.
• Increased irritability.
• Poor wound healing.
• Rapid heartbeat (tachycardia). While listening to the heart with a phonendoscope, the doctor hears increased shocks, noises.
• With severe anemia, sleep and concentration are disturbed, the child copes worse with school assignments. Digestion is disturbed, appetite decreases, anorexia may develop.
• In girls, the menstrual cycle is disturbed: it becomes irregular, there is a delay in menstruation or their complete absence.
• With anemia caused by the destruction of red blood cells and a violation of the structure of hemoglobin, jaundice develops, the spleen enlarges.
• With the rapid destruction of red blood cells (hemolysis), the child complains of headaches, pain in the abdomen and lower back. Possible fainting, fever.
• With prolonged anemia, the child lags behind in growth and psychomotor development.

With iron deficiency anemia, the most common symptoms are pallor, fatigue, stunting and development, cold hands and feet, poor appetite, rapid breathing, frequent infections, and behavioral disturbances. A specific sign is a perversion of appetite. For example, a child may want to eat pieces of chalk, bricks, ice, etc.

With mild anemia, clearly visible symptoms may be absent, and the pathology is detected only by the results of a blood test.

When to see a doctor?

All the symptoms listed above should be a reason to contact a pediatrician and undergo an examination. In case of any doubts, it is better to make sure that everything is in order with the child than to miss a serious illness.

Diagnostic methods

If anemia is suspected, an extended complete blood count is first prescribed. It is necessary to determine the number of red blood cells, hemoglobin, hematocrit (the ratio of cells and the liquid part of the blood), the color index, the number of reticulocytes, the average volume of red blood cells and other parameters.

The most important indicator by which pathology can be detected and the degree of anemia in children can be determined is the level of hemoglobin. A child is diagnosed with anemia if this indicator is:

• in newborns less than 135 g/l
• 1 to 6 months – less than 95 g/l
• from 5 to 12 years – less than 115 g/l

The red blood cell count is a less reliable indicator, and it does not always drop exactly according to the degree of anemia.

Other studies are carried out according to indications. The doctor may prescribe a general urine test, occult blood tests, determination of blood levels of bilirubin, urea, creatinine and other substances, antibody testing, ultrasound, CT, MRI. Sometimes a bone marrow examination is required.

Doctors at the Nashe Vremya clinic strictly adhere to the rules of evidence-based medicine. They do not prescribe tests and studies “just in case”, without good reason. In each specific situation, only those diagnostic and treatment methods are used that are really necessary, can be beneficial, and the effectiveness of which has been proven in scientific studies. Our doctors explain in detail to parents why they prescribe this or that procedure, how it will go.

Methods of treatment

The tactics of treating anemia in children depends on the cause of the decrease in hemoglobin levels.

With a deficiency of iron, vitamin B12 and folic acid, you need to additionally provide the body with these substances. So, with iron deficiency anemia, iron preparations are used. Dosages depend on the age of the patient, the degree of deficiency, how quickly the correction needs to be made, and tolerance. Against the background of taking, a metallic taste in the mouth, staining of feces in black, constipation is possible). Iron is usually taken in oral (swallowed) forms. Sometimes, for example, with ongoing blood loss, iron preparations are administered intravenously.

Bone marrow and stem cell disorders, such as aplastic anemia, require a red bone marrow transplant. Such situations are rare.

With a large acute blood loss, an erythrocyte mass is transfused, the volume of fluid is replenished through a dropper.

With anemia on the background of chronic diseases, you need to deal with the underlying problem. For example, if a child is diagnosed with an autoimmune or rheumatological pathology, treatment should be comprehensive.

Anemia with accelerated destruction of red blood cells may require the following measures:

• if the disorder is caused by drugs, then they should be discontinued (this should be done by the doctor, not the parents themselves!)
• sickle cell anemia and other hemoglobinopathies require blood transfusion
• in rare cases, persistent hemolytic anemia may require splenectomy – removal of the spleen

Forecast

The prognosis depends on the causes, in most cases it is favorable, especially with a stable chronic course. Serious complications are rare and are not associated with a decrease in hemoglobin levels, but with the underlying disease. Death from chronic anemia is extremely rare. But acute massive bleeding and hemolysis can be fatal if timely medical care is not provided.

Prevention

Let’s talk about measures to prevent iron deficiency anemia as the most common type:

• Breastfeed your baby. Up to 4 months, babies get enough iron from breast milk if the mother follows the right diet.
• Iron supplements can be given from 4 months of age, after consulting a pediatrician. They are given until the child begins to regularly eat foods rich in iron.
• Iron-fortified formulas are also available.
• Before 12 months, cow’s milk should not be given to the baby because it contains very little iron and makes it difficult to absorb in the digestive tract.
• As you get older, make sure your child has enough iron-rich foods in their diet. These include fortified cereals and cereals, red meat, egg yolks, potatoes, tomatoes, and raisins.

Main

• Anemia is a condition in which the level of hemoglobin and/or red blood cells decreases in the blood. This is not a single diagnosis; anemia can occur with many diseases.
• There are many types of anemia. It can be caused by insufficient formation of new red blood cells, their accelerated destruction (hemolysis), bleeding.
• The most common form is iron deficiency anemia.
• The most common symptoms are: pallor, fatigue, headaches, dizziness, tinnitus, shortness of breath, palpitations. If these symptoms appear, you should consult a doctor.
• Blood tests are done to diagnose anemia.
• Treatment depends on the underlying cause. Iron deficiency anemia is treated with iron supplements.
• In chronic anemia, the prognosis is most often favorable. In acute massive bleeding or hemolysis, there is a threat to life.
• The main measure for the prevention of iron deficiency anemia is sufficient iron content in the child’s diet.

Sources :

Zhetishev R. A. et al. ANEMIA OF NEWBORN DIAGNOSIS, PREVENTION, TREATMENT. CLINICAL RECOMMENDATIONS
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Aurelie A. Righetti, Ahou-Yah G. Koua, Lukas G. Adiossan et al. Etiology of Anemia Among Infants, School-Aged Children, and Young Non-Pregnant Women in Different Settings of South Central Côte d’Ivoire. Am J Trop Med Hyg. 2012 Sep 5; 87(3): 425–434.
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RYAZAN BRANCH OF THE FEDERAL RESEARCH AND CLINICAL CENTER OF PEDIATRIC HEMATOLOGY, ONCOLOGY AND IMMUNOLOGY named after DMITRY ROGACHEV.