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Anemia in Pediatrics
Anemia in Pediatrics
Anemia in Pediatrics
Definition
• The term megaloblastic anemia (MA) is used
to describe a macrocytic anemia that is
associated with a characteristic change-the
megaloblastic change in the erythroid
precursors in the bone marrow.
Causes of megaloblastic anemia
• There are many causes of megaloblastic anemia, but the most common
source in children occurs from a vitamin deficiency of folic acid or
vitamin B-12. Other sources of megaloblastic anemia include the
following:
• Digestive diseases
These include celiac disease, chronic infectious enteritis, and
enteroenteric fistulas. Pernicious anemia is a type of megaloblastic
anemia caused by an inability to absorb Vitamin B-12 due to a lack of
intrinsic factor in gastric (stomach) secretions. which factor enables the
absorption of Vitamin B-12.
• malabsorption
Inherited congenital folate malabsorption, a genetic disease; condition
requires early intensive treatment to prevent long term problems such as
mental retardation.
• Infection (intestinal parasites, bacterial overgrowth)
• Medication-induced folic acid deficiency
Certain medications, specifically ones that prevent seizures, such as
phenytoin, primidone, and phenobarbital, can impair the absorption of
folic acid. The deficiency can usually be treated with a dietary
supplement.
Folic acid is a B vitamin required for the production of normal red blood
cells. Folic acid is present in foods such as green vegetables, liver, and
yeast. It is also produced synthetically and added to many food items.
Foods that are rich in folic acid include the following:
• Nutritional megaloblastic anemia in children occurs
commonly among under-nourished or malnourished
societies of tropical and subtropical countries. The
commonest age is 3-18 months with maximum
number of cases being in 9-12 months(1). These
children are generally exclusively breast-fed by
mothers who are undernourished and have poor blood
levels of folate and cobalamin
• Intrinsic factor is a protein the body uses to absorb
vitamin B12. When gastric secretions do not have
enough intrinsic factor, vitamin B12 is not adequately
absorbed, resulting in pernicious anemia. Absence of
intrinsic factor itself is the most common cause of
Vitamin B12 deficiency. Intrinsic factor is produced by
cells within the stomach
•
Clinics
• The onset of the disease is slow and may span decades.
• pallor
• Developmental retardation or regression is an important finding. These
children are normally apathetic, not interested in surroundings and have
hypotomia.
• Hyperpigmentation of knukles, terminal phalanges, dorsum of hand etc is
seen.
• Tremors are described in 5-15% cases-the infantile tremor syndrome of
megaloblastic anemia, hypotonia, developmental regression and tremors.
Some of the cases of MA may clinically mimic cases of acute leukemia and
aplastic anemia as hepatosplenomegaly (due to extramedullary
hemopoiesis) of varying severity and cutaneous and other bleeding
manifestations are described in 25-30% cases.abnormal paleness or lack of
color of the skin
• decreased appetite
• irritability
• lack of energy or tiring easily (fatigue)
• diarrhea
• difficulty walking
• numbness or tingling in hands and feet
• smooth and tender tongue
Laboratory tests
• Diagnosis of MA is suggested by presence of macrocytosis. Presence of
hypersegmented neutrophils also supports the diagnosis. Some cases may
have circulating red cell precursors showing megaloblastic changes.
Reticulocyte count is usually decreased. MCV is found to be increased (>90
fl.) What is more striking on peripheral blood examination is presence of
• thrombocytopenia, leucopenia and neutropenia. Thrombocytopenia is
described in 50-80% cases with many of them having precariously low
platelet counts. Neutropenia has been reported in 20-50% cases. Thus
many cases (upto 50% in some cases) of MA may have pancytopenia - a
finding which might lead to misdiagnosis of aplastic anemia (or acute
leukemia if hepatosplenomegaly is also present). In some series on
pancytopenia it has been observed that MA is more frequent etiological
diagnosis than aplastic anemia or leukemia. The diagnosis of MA is
confirmed on bone marrow examination that shows trilineal hyperplasia
with megaloblastic change typically in the erythroid precursors.
• Reduced serum levels of B12 and folate will make the etiological diagnosis.
It has been shown that serum and urinary methylmalonic acid (MMA) are
increased in B12 deficiency and not in folate deficiency states.
• The Schilling test is performed to detect
vitamin B12 absorption. In the Schilling test,
vitamin B12 levels are measured in the urine
after the ingestion of radioactive vitamin B12.
With normal absorption, the ileum (portion of
the small intestine) absorbs more vitamin B12
than the body needs and excretes the excess
into the urine. With impaired absorption,
however, little or no vitamin B12 is excreted
into the urine.
Treatment
B. Acquired
1. Membrane abnormality-paroxysmal nocturnal hemoglobinuria
(PNH)
II. Extracorpuscular factors
A. Immune hemolytic anemias
1. Autoimmune hemolytic anemia
- caused by warm-reactive antibodies
- caused by cold-reactive antibodies
2. Transfusion of incompatible blood
• Definition;incidence
• Most common hereditary hemolytic anemia with dominant
autosomal trait among people of Northern European
origin.
• Phisiopathology
• This disorder is caused by a defective gene. The defect
results in an abnormal red cell membrane so that the
affected cells have a smaller surface area for their volume
than normal red blood cells and resulting in cytoskeleton
instability. The cells are less resistant to stresses and
rupture easily.
• Four abnormalities in red cell membrane
proteins include :
• spectrin deficiency
• combined spectrin and ankyrin deficiency
• band 3 deficiency
• protein 4.2 defects
Clinical signs
Complications
• The severe anemia resulting from this disease, if
untreated, can result in high-output cardiac failure
• Increased iron deposition results in secondary iron
overload. This overload causes clinical problems :
endocrine dysfunction, liver dysfunction, cardiac
dysfunction
• The gall bladder may contain bilirubin stones formed
as a result of hemolytic state
Treatment
• The goal of long-term hypertransfusional support
is to maintain the patient's Hb at 9-10 g/dL.
Patients receiving transfusion therapy also
require iron chelation with desferrioxamine,
deferasirox.
• Allogeneic hematopoietic transplantation may be
curative in some patients with thalassemia major.
• Patients with thalassemia minor rarely require
splenectomy, although the development of
bilirubin stones can require cholecistectomy.
Glucose-6-Phosphate
Dehydrogenase Deficiency
• The G6PD enzyme catalyzes an oxidation-
reduction reaction transferring electrons from
one molecule to another;the G6PD enzyme
functions in catalyzing the oxidation of
glucose-6-phosphate to 6-phosphogluconate,
while concomitantly reducing nicotinamide
adenine dinucleotide phosphate (NADP+ to
NADPH).
• Incidence
• Highest prevalence rates are found in tropical Africa Middle East,
tropical and subtropical Asia, Mediterranean areas.
• These include neonatal jaundice, abdominal and/or back pain,
dizziness, headache, dyspnea (irregular breathing), and
palpitations.
• Clinics
• Phisycal signs include neonatal jaundice, abdominal and/or back
pain, dizziness, headache, dyspnea (irregular breathing), and
palpitations.
•
• Neonatal jaundice is a common condition in all newborns, but when
it persists, G6PD deficiency is suspected. Neonatal jaundice is a
yellowish coloration of eyes, skin, and mucous membranes caused
by deposition of bile salts in these tissues. This is a direct result of
insufficient activity of the G6PD enzyme in the liver. In some cases,
the neonatal jaundice is severe enough to cause death or
permanent neurologic damage. Kernicterus is a rare complication.
• Hemolytic anemia is another condition which
may cause problems for G6PD deficient
individuals,back pain,abdominal pain, jaundice
and splenomegaly may be present during a crisis.
An anemic response can be induced in affected
individuals by certain oxidative drugs, fava beans
or infections. Most common drugs that can
trigger haemolytic crisis are: acetophenetidin
(phenacetin), amidopyrine (aminopyrine),aspirin,
pyramidone, methylene blue,nalidixic acid,
quinine, vitamin K (water soluble), cotrimoxazole,
nitrofurantoin,
• Sulfacetamide; infections that can precipitate a
hemolytic episode are viral hepatitis, pneumonia,
and salmonella infections.
Laboratory tests
• Level of enzyme activity of G6PD is low
• CBC count ( red blood cells can present Heinz bodies) with
reticulocyte count to determine the level of anemia
• Indirect bilirubinemia occurs
• Serum haptoglobin levels are decreased
• Abdominal ultrasound may be useful in assessing for
splenomegaly and gallstones.
• Treatment
• Infants with prolonged neonatal jaundice are placed under
special lights, called bili-lights, which alleviate the jaundice or
require exchange transfusional procedures
• Identification and discontinuation of the precipitating agent is
critical. Individuals are treated with oxygen and bed rest, which
may afford symptomatic relief.
• Avoid oxidant drugs. Most patients do not need treatment.