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Overview of causes of anemia in children due to decreased red blood cell production

Overview of causes of anemia in children due to decreased red blood cell production
Literature review current through: Jan 2024.
This topic last updated: May 01, 2023.

INTRODUCTION — Anemias caused by decreased red blood cell (RBC) production are characterized by an inappropriately low reticulocyte count. They are often grouped under the broader category of bone marrow failure, although their mechanisms and/or presentations may be markedly different and other diagnoses need to be explored (table 1).

This topic review outlines the main causes of anemia due to decreased RBC production, focusing on congenital and acquired pure red cell aplasia (PRCA) and congenital dyserythropoiesis.

The general approach to evaluating a child with anemia and detailed discussion of specific causes of anemia with decreased RBC production are provided separately:

(See "Approach to the child with anemia".)

(See "Iron deficiency in infants and children <12 years: Screening, prevention, clinical manifestations, and diagnosis".)

(See "Causes and pathophysiology of the sideroblastic anemias".)

(See "Childhood lead poisoning: Clinical manifestations and diagnosis".)

(See "Treatment of vitamin B12 and folate deficiencies".)

(See "Anemia of chronic disease/anemia of inflammation".)

(See "Chronic kidney disease in children: Complications", section on 'Anemia'.)

(See "Treatment of acquired aplastic anemia in children and adolescents".)

(See "Clinical manifestations and diagnosis of Fanconi anemia".)

(See "Diamond-Blackfan anemia".)

PURE RED CELL APLASIA — Disorders resulting in isolated anemia with reticulocytopenia are grouped together in the category of pure red cell aplasia (PRCA). PRCAs are generally characterized by:

Normochromic and normocytic or macrocytic anemia (normal hematologic parameters for children are summarized in the table (table 2))

Inappropriately low reticulocyte count

Other cell lines are usually not affected

Overall bone marrow cellularity is normal, with either decreased or absent erythroid precursors

PRCA in children may be congenital (eg, Diamond-Blackfan anemia [DBA]) or acquired (eg, transient erythroblastopenia of childhood [TEC] or an erythroblastopenic crisis in a patient with underlying chronic hemolytic anemia).

The characteristic finding of PRCA is isolated anemia with reticulocytopenia. When interpreting the reticulocyte count, attention must be paid to the particular reticulocyte parameter reported (percentage versus absolute count). It is often helpful to estimate the corrected reticulocyte count (ie, the reticulocyte count corrected for the degree of anemia). This is discussed in greater detail separately. (See "Approach to the child with anemia", section on 'Reticulocyte count'.)

Congenital causes

Diamond-Blackfan anemia — DBA is a congenital erythroid aplasia that usually presents in infancy. It is characterized by the following features (table 3):

Progressive normochromic, usually macrocytic anemia in infancy or early childhood

Reticulocytopenia

Normal cellularity of the bone marrow with markedly decreased or absent erythroid precursors

White blood cell count is generally normal; platelet counts are generally normal but can be increased or decreased

Congenital malformations (50 percent of patients) (table 4)

Increased risk of malignancies

Increased risk of endocrine dysfunction

DBA is caused by genetic mutations affecting ribosome synthesis. This results in stabilization and activation of protein p53 of tumor suppressor pathway, which is thought to be the one of the causes of the clinical manifestations, including impaired erythropoiesis.

DBA is discussed in detail separately. (See "Diamond-Blackfan anemia".)

Other congenital causes

Aase syndrome – The name "Aase syndrome" has been used to describe patients with congenital anemia, triphalangeal thumbs, cleft lip-palate, and cardiac defects [1,2]. However, Aase syndrome is probably a variant of DBA rather than a distinct clinical entity [3-5]. (See "Diamond-Blackfan anemia", section on 'Physical features'.)

Pearson marrow pancreas syndromePearson marrow pancreas syndrome is a relatively rare condition that overlaps with the features of DBA. This condition can be diagnosed via mitochondrial deoxyribonucleic acid (DNA) deletion testing. Clinical features are not always sufficient to distinguish these disorders. The anemia associated with Pearson marrow pancreas syndrome is generally categorized as sideroblastic anemia rather than PRCA. (See "Causes and pathophysiology of the sideroblastic anemias", section on 'Pearson syndrome (large deletion of mitochondrial DNA)'.)

Acquired causes — TEC and infection-associated RBC aplasia (eg, due to parvovirus B19) are relatively common causes of PRCA in children, whereas the other acquired conditions are rarely seen in children (table 5).

Transient erythroblastopenia of childhood — TEC is a transient or temporary red cell aplasia, distinguishing it from the chronic inherited condition, DBA [6-8]. It is a self-limited anemia that typically occurs in previously healthy young children between the ages of one and four years. It is the most common cause of PRCA in children, and it is likely that many cases are subclinical. TEC should be suspected in an otherwise healthy child with anemia and reticulocytopenia. An extensive evaluation usually is not necessary, provided that the mean corpuscular volume (MCV) is normal and the blood smear does not suggest a primary RBC disorder or malignancy.

Etiology — The etiology of TEC is unknown, but possible causes include viral illness, serum inhibitors against erythroid progenitor cells, and cell-mediated suppression of erythropoiesis [9-12]. A genetic predisposition has been postulated but not established.

In approximately one-half of the cases, children have a history of a viral illness in the preceding two to three months [8,13]. Echovirus 11, human herpesvirus type 6, and parvovirus have all been reported to be associated with the development of TEC [9,10,14]. In particular, an association with parvovirus serotype 19 has been suggested but not generally supported by virologic investigations. For example, in one case of TEC, parvovirus B19 genome was detected in blood and bone marrow at diagnosis and no longer detected when TEC resolved clinically [15]. However, in a series of 16 patients ages 3 to 23 months with TEC, amplification for parvovirus B19 from bone marrow was negative, suggesting parvovirus may not be the cause of TEC in young patients [16]. Seasonal clustering has been noted in small groups of patients. However, when large groups of patients are reviewed, no overall seasonal predominance is appreciated [17,18], speaking against a specific viral etiology.

Reports describing TEC occurring simultaneously or separately in siblings support the possibility of a genetic predisposition [19-21].

Clinical findings — TEC usually occurs in children between the ages of one and four years [7,8]. It is uncommon in infants <6 months old and in children >6 years old; however, cases in young infants have been reported [22,23]. Males may be affected more often than females, and TEC has been seen in all ethnic groups [8]. TEC typically presents in children who are otherwise healthy.

Hematologic findings — Patients generally present with mild to moderate anemia (hemoglobin [Hgb] in the range of 6 to 8 g/dL) with reticulocytopenia [18]. Mild neutropenia has been noted in ≥50 percent of patients with TEC in several series, and platelet counts may be normal or elevated [18,24,25]. In contrast with patients with DBA, patients with TEC do not have an elevated RBC MCV at diagnosis, nor do they have an increased percentage of fetal Hgb (Hgb F) or i antigen, and erythrocyte adenosine deaminase (eADA) activity is almost always normal (table 3) [26]. Prior blood counts, if available, generally show normal Hgb concentrations [22]. Patients with TEC may have a slightly elevated MCV at the time of recovery because of the increased number of reticulocytes.

TEC may be distinguished from DBA based on the above clinical and laboratory data (table 3). These data may obviate the need for a bone marrow examination in some patients [18]. Distinguishing between DBA and TEC patients who present with hypoplastic anemia in the first year of life may be particularly challenging. In this setting, serial measurements of Hgb, MCV, and reticulocyte count can be helpful [22]. The reticulocyte count typically starts to increase within one to two weeks in patients with TEC and Hgb and MCV typically normalize within one to two months. By contrast, patients with DBA are expected to have persistently low reticulocyte count, low Hgb, and elevated MCVs for age.

Treatment — Management of TEC is purely supportive. The typical clinical course of TEC consists of anemia of one to two months' duration, followed by complete recovery. At the time of presentation, 5 to 10 percent of patients are already in the recovery phase, with 80 percent recovering within one month [8,17] and the remainder within two months [13]. Reports of the timing of neutrophil recovery are variable, with some studies finding that the absolute neutrophil count returns to normal prior to the appearance of reticulocytes, while others found that white blood cell recovery has no relation to the recovery of the anemia [18,25].

In our experience, children with TEC tolerate the anemia remarkably well and RBC transfusions are rarely required (eg, only if the patient has cardiorespiratory symptoms or fatigue that interferes with their quality of life). We do not use glucocorticoids to treat TEC. Though there are reports of using steroid therapy in this setting, there is no convincing evidence that it hastens recovery [17]. Given the benign nature of TEC, we believe the known adverse effects of systemic steroids outweigh any potential benefit.

Infections — Parvovirus B19 is the infectious agent most commonly associated with acquired red cell aplasia; however, other infectious agents have been described (including hepatitis A, B, and C; Epstein-Barr virus; and human immunodeficiency virus [HIV]) [27-32]. Whether parvovirus is responsible for some cases of TEC is not clear, as discussed above. (See 'Transient erythroblastopenia of childhood' above.)

Human parvovirus B19 is a common infection that results in erythema infectiosum (fifth disease) in childhood, which is characterized by a classic erythematous malar rash (the so-called slapped cheek rash (picture 1A-B)), often followed several days later by a reticulated or lacelike rash on the trunk and extremities (picture 2). (See "Clinical manifestations and diagnosis of parvovirus B19 infection".)

Parvovirus infection can result in a temporary cessation of RBC production. The impact of parvovirus infection varies depending on whether the patient has an underlying condition:

Patients with underlying chronic hemolytic anemia – In patients with chronic hemolytic anemias (eg, sickle cell anemia, thalassemia, pyruvate kinase deficiency, autoimmune hemolytic anemia, spherocytosis, pyropoikilocytosis, and elliptocytosis), the temporary cessation of RBC production may result in severe anemia or "aplastic (erythroblastopenic) crisis." (See "Overview of the clinical manifestations of sickle cell disease", section on 'Aplastic crisis' and "Clinical manifestations and diagnosis of parvovirus B19 infection", section on 'Transient aplastic crisis'.)

Immunocompromised patients – Immunocompromised patients (eg, transplant recipients, patients with HIV, those receiving immunosuppressive therapy) are at risk for the development of chronic anemia with parvovirus infections because of their impaired ability to clear the viral infection. (See "Clinical manifestations and diagnosis of parvovirus B19 infection", section on 'Chronic infection in immunosuppressed hosts'.)

Immunocompetent host – In patients without underlying immunodeficiency or chronic anemia, the temporary cessation of RBC production usually does not have any clinical consequences (figure 1). Rarely, a healthy patient will experience significant RBC aplasia and develop clinically significant anemia due to parvovirus infection. In such patients, it is prudent to perform testing to exclude a previously unsuspected underlying chronic hemolytic anemia or immune disorder. Occasionally, patients with well-compensated and hereditary hemolytic anemias are diagnosed following presentation with parvovirus-induced RBC aplasia [33,34].

The microbiology, epidemiology, clinical manifestations, diagnosis, and treatment of parvovirus B19 infection are discussed in detail separately. (See "Virology, epidemiology, and pathogenesis of parvovirus B19 infection" and "Clinical manifestations and diagnosis of parvovirus B19 infection" and "Treatment and prevention of parvovirus B19 infection".)

Other acquired causes — Rarely, PRCA can occur in children due to other acquired causes, including drugs, thymoma, malignancies, ABO-incompatible allogenic transplant, and autoimmune disorders (eg, systemic lupus erythematosus, rheumatoid arthritis; however, autoimmune disorders more commonly cause autoimmune hemolytic anemia rather than PRCA) (table 5). (See "Clinical presentation and management of thymoma and thymic carcinoma" and "Childhood-onset systemic lupus erythematosus (SLE): Clinical manifestations and diagnosis", section on 'Hematologic'.)

BONE MARROW FAILURE — Bone marrow failure syndromes other than DBA include acquired aplastic anemia, Fanconi anemia, and Shwachman-Diamond syndrome. These disorders affect granulocytes and/or platelets in addition to RBCs but may present with hypoplastic anemia. Malignancy and myelofibrosis may also result in bone marrow replacement, causing anemia with a poor reticulocyte response. Metabolic causes of myelofibrosis include hypoparathyroidism, chronic renal failure, and vitamin deficiency [35].

Bone marrow failure syndromes are discussed separately:

Acquired aplastic anemia (see "Aplastic anemia: Pathogenesis, clinical manifestations, and diagnosis" and "Treatment of acquired aplastic anemia in children and adolescents")

Fanconi anemia (see "Clinical manifestations and diagnosis of Fanconi anemia" and "Management and prognosis of Fanconi anemia")

Shwachman-Diamond syndrome (see "Shwachman-Diamond syndrome")

Dyskeratosis congenita (see "Dyskeratosis congenita and other telomere biology disorders")

Myelofibrosis (see "Clinical manifestations and diagnosis of primary myelofibrosis" and "Pathogenetic mechanisms in primary myelofibrosis" and "Myelofibrosis (MF): Management of primary MF and secondary MF")

IMPAIRED ERYTHROPOIETIN PRODUCTION

Physiology of erythropoietin — Erythropoietin (EPO) is the growth factor responsible for the regulation of RBC production. It is produced initially in the fetal and neonatal liver and, subsequently, primarily in the kidneys. EPO is part of a complex regulatory system, adjusting RBC production based upon tissue oxygen demand [36]. Hypoxic conditions (ie, anemia), as well as a fall in the arterial oxygen pressure (eg, from cardiopulmonary disease or exposure to high altitude), stimulate EPO production and thus RBC production.

Metabolic factors may influence EPO production. For example, hypothyroidism, starvation, and hypophysectomy result in reduced EPO levels, and stimulation of thyroid hormone results in increased EPO levels [37,38]. Abnormally low EPO production, or failure of EPO levels to rise in the face of hypoxia, may result in anemia with a poor reticulocyte response. (See "Regulation of erythropoiesis", section on 'Erythropoietin'.)

Chronic kidney disease — Children with chronic kidney disease may have normocytic anemia that is likely multifactorial but is largely caused by low EPO levels. Anemia in chronic kidney disease is discussed in greater detail separately. (See "Chronic kidney disease in children: Complications", section on 'Anemia'.)

Anemia of chronic disease — Anemia of chronic disease is multifactorial and is usually associated with the presence of infection, inflammation, or malignancy. Anemia of chronic disease is usually a mild anemia with either normocytic or microcytic cells and reticulocytopenia. The presence of normal to elevated ferritin concentrations distinguishes anemia of chronic disease from iron deficiency anemia, in which ferritin concentration is low.

Anemia of chronic disease is reviewed in greater detail separately. (See "Anemia of chronic disease/anemia of inflammation".)

ERYTHROID MATURATION DISORDERS AND INEFFECTIVE ERYTHROPOIESIS — Disorders of erythroid maturation or ineffective erythropoiesis may also result in anemia with reticulocytopenia.

Common acquired causes — Common acquired causes of anemia that fall into this category are reviewed in detail separately.

Iron deficiency anemia — Iron deficiency in childhood is discussed in detail separately. (See "Iron deficiency in infants and children <12 years: Screening, prevention, clinical manifestations, and diagnosis" and "Iron requirements and iron deficiency in adolescents".)

Sideroblastic anemias — Sideroblastic anemias are discussed in detail separately. (See "Causes and pathophysiology of the sideroblastic anemias" and "Sideroblastic anemias: Diagnosis and management".)

Lead poisoning — Lead poisoning is discussed in detail separately. (See "Childhood lead poisoning: Clinical manifestations and diagnosis".)

Megaloblastic anemias — Megaloblastic anemia (eg, due to vitamin B12 or folate deficiency) is discussed in detail separately. (See "Treatment of vitamin B12 and folate deficiencies".)

Congenital dyserythropoietic anemia — The congenital dyserythropoietic anemias (CDAs) are a group of rare disorders characterized by anemia due to ineffective erythropoiesis and multinuclear erythroblasts (figure 2) [39,40].

Clinical features — The clinical features, laboratory and bone marrow examination findings, and genetics of the different CDA types are summarized in the table (figure 2). Key features include [39-42]:

Anemia with reticulocytopenia – The anemia in CDA can range from mild to severe. It is usually macrocytic or normocytic.

Multinuclear erythroblasts – On bone marrow examination, the characteristic finding in all types of CDA is the presence of multinuclear erythroblasts. The presence of binucleated normoblasts on the peripheral blood smear is highly suggestive of CDA, particularly [43].

Hemolysis – In CDA types II, III, and IV, there is typically evidence of hemolysis, which may include abnormalities on biochemical tests (eg, elevated indirect bilirubin, elevated LDH, etc) and/or clinical findings (eg, jaundice). Patients with type II and type IV CDA may also have splenomegaly, whereas splenomegaly is not a characteristic finding in type III CDA.

Iron overload – Iron overload, caused by increased absorption of intestinal iron as well as chronic transfusions, is a problem for patients with all types of CDA [44,45]. It is, at least in part, related to the presence of severe degrees of ineffective erythropoiesis, along with inappropriate suppression of hepcidin [46]. (See "Approach to the patient with suspected iron overload", section on 'Ineffective erythropoiesis'.)

Nonhematologic findings – Patients with some forms of CDA (particularly type I) may have nonhematologic findings, most commonly skeletal abnormalities involving the distal extremities, chest wall deformities, and short stature.

Diagnosis — The diagnosis of CDA is confirmed with genetic testing. At most centers, the preferred approach to genetic testing is next-generation sequencing (NGS) using a targeted panel. A list of laboratories performing testing for CDAs and other hereditary anemias is available on the Genetic Testing Registry website. If NGS is not available, single gene testing may be appropriate in patients with convincing clinical and laboratory findings.

Treatment — Therapy depends upon the type of CDA and severity of anemia [39,40,43,45,47,48]:

Transfusions may be required for patients with severe anemia.

Interferon alfa may be effective in patients with CDA type I.

Splenectomy may be effective for patients with CDA type II, though it results in only modest improvement in the anemia and thus is generally reserved for patients with severe anemia and/or symptomatic splenomegaly. Splenectomy is associated with increased risk of thromboembolic events and life-long infection risk.

Iron chelation therapy may be required for treatment of iron overload, particularly in transfusion-dependent patients [43]. (See "Iron chelators: Choice of agent, dosing, and adverse effects".)

Of note, iron supplementation should be avoided since patients with CDA have increased absorption of intestinal iron and tend to have problems with iron overload even in the absence of transfusion [44].

Hematopoietic cell transplantation (HCT) is a potentially curative therapy that has been described in patients with CDA [49-52].

SUMMARY AND RECOMMENDATIONS

Mechanism – Anemias caused by decreased red blood cell (RBC) production can be categorized according to the mechanism as follows (table 1) (see 'Introduction' above):

Pure red cell aplasia (PRCA), either congenital or acquired (table 5)

Bone marrow failure involving more than one cell line

Anemia caused by marrow replacement (malignancy, storage disease)

Anemia caused by decreased erythropoietin (EPO) availability

Anemia related to ineffective erythropoiesis

Anemia caused by disordered erythroid maturation

Pure red cell aplasia – PRCAs are disorders with decreased RBC production without involvement of other cell lines. They are characterized by reticulocytopenia and anemia, which is generally normochromic and normocytic or macrocytic. (See 'Pure red cell aplasia' above.)

Diamond-Blackfan anemia (DBA) is a congenital PRCA that usually presents in infancy. Approximately one-half of patients with DBA have associated malformations, most commonly craniofacial and upper limb anomalies (table 4). DBA is associated with a predisposition to cancer. Diagnosis and management of DBA are discussed separately. (See 'Diamond-Blackfan anemia' above and "Diamond-Blackfan anemia".)

Transient erythroblastopenia of childhood (TEC) is a self-limited red cell aplasia due to a temporary cessation of erythrocyte production that typically occurs in previously healthy children between the ages of one and four years. The etiology is unclear. TEC is the most common cause of PRCA in children and should be suspected in an otherwise healthy child with anemia and reticulocytopenia. The clinical picture, laboratory findings, and course can help distinguish TEC from DBA (table 3). (See 'Transient erythroblastopenia of childhood' above.)

Infections can also cause acquired PRCA in children. The most common infectious cause of acquired red cell aplasia is parvovirus B19. Other infectious causes include hepatitis A, B, and C; Epstein-Barr virus; and HIV. (See 'Infections' above.)

Noninfectious causes of acquired red cell aplasia include drugs, autoimmune disorders (eg, systemic lupus erythematosus, rheumatoid arthritis), thymoma, and malignancies (table 5). These are uncommon causes of PRCA in children. (See 'Infections' above and 'Acquired causes' above.)

Bone marrow failure or infiltration – Bone marrow failure resulting in red cell aplasia can be caused by acquired aplastic anemia, Fanconi anemia, Shwachman-Diamond syndrome or other inherited bone marrow failure syndrome, infiltrating malignancies, or myelofibrosis. These disorders are discussed separately. (See 'Bone marrow failure' above and "Aplastic anemia: Pathogenesis, clinical manifestations, and diagnosis" and "Clinical manifestations and diagnosis of Fanconi anemia" and "Shwachman-Diamond syndrome" and "Clinical manifestations and diagnosis of primary myelofibrosis".)

Impaired EPO production – The two main causes in this category are chronic kidney disease and anemia of chronic disease, which are discussed separately. (See "Chronic kidney disease in children: Complications", section on 'Anemia' and "Anemia of chronic disease/anemia of inflammation".)

Disorders of erythroid maturation/ineffective erythropoiesis – A variety of disorders cause anemia because of ineffective erythropoiesis or disordered erythroid maturation:

Acquired causes – Common acquired causes of anemia that fall into this category are reviewed in detail separately. These include the following:

-Iron deficiency (see "Iron deficiency in infants and children <12 years: Screening, prevention, clinical manifestations, and diagnosis" and "Iron requirements and iron deficiency in adolescents")

-Sideroblastic anemias (see "Sideroblastic anemias: Diagnosis and management", section on 'Acquired sideroblastic anemias')

-Lead poisoning (see "Childhood lead poisoning: Clinical manifestations and diagnosis")

-Megaloblastic anemias (see "Treatment of vitamin B12 and folate deficiencies")

Congenital dyserythropoietic anemias (CDA) – CDAs are a group of rare disorders characterized by anemia due to ineffective erythropoiesis and multinuclear erythroblasts (figure 2). Treatment depends on the specific type and severity of anemia. (See 'Congenital dyserythropoietic anemia' above.)

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Topic 5931 Version 43.0

References

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