Pediatric Primary Care: Practice Guidelines for Nurses, 2nd Ed.


Hematologic Disorders

Betsy Atkinson Joyce



Anemia, 280.9

Palmar pallor, 782.61


Anemia, mild, 285.9

Poor weight gain, 263.9


Fatigue, 780.79

Splenomegaly, 789.2


GI bleeding, 578.9

Systolic flow murmurs, 785.2


Headaches, 784

Tachycardia, 785


Irritability, 799.2


A. Most common anemia of childhood. Anemia is defined as reduction in red blood cell (RBC) mass or in hemoglobin concentration to a level that is > 2 standard deviations below mean in healthy children. Can be determined in primary care setting by physical examination, important aspects of history, and hemoglobin concentration. Screening should occur routinely around 9 months to 1 year. High-risk infants: screen earlier, more often.

B. Etiology.

1. Microcytic anemia reflecting defect in production of hemoglobin during erythrocyte maturation, resulting from defect in heme synthesis due to inadequate quantities of iron:

a. Inadequate supply of iron at birth, inadequate dietary iron.

b. High demand for iron associated with growth.

c. Blood loss without replacement.

d. Inflammatory bowel disease.

e. Menstruation.

C. Occurrence.

1. Common between 1 and 3 years of age because of inadequate dietary iron due to cow's milk being major staple in most children's diets.

2. Lack of adequate iron stores to meet needs for growth.

a. Affects 9% of children younger than 2 years of age.

b. Affects 9-11% of adolescent females.

3. Lack of adequate iron to meet needs for RBC production.

a. Affects 3% of children younger than 2 years of age.

b. Affects up to 3% of adolescent females and < 1% of adolescent males.

D. Clinical manifestations.

1. Mild anemia (hemoglobin of 9.5-11): may be asymptomatic; sometimes only minimal symptoms when severe anemia (hemoglobin of 8-9.5 or lower) is present. May only be detected on routine screening or discovered when blood count ordered for another reason.

2. History of fatigue, irritability, excessive milk intake, headaches.

E. Physical findings.

1. Mild anemia (normal physical exam).

2. More severe anemia.

a. Poor weight gain.

b. Sclera or palmar pallor.

c. Splenomegaly: 15% of affected children.

d. Tachycardia.

e. Systolic flow murmurs: with progression of the iron deficit.

F. Diagnostic tests.

1. Hemoglobin concentration (Table 32-1).

2. Complete blood count (CBC).

a. RBC hypochromic, microcytic.

b. Mean cell volume (MCV) decreased.

c. Ratio of MCV/RBC > 13 (Mentzer index).

• > 13 = iron-deficiency anemia.

• < 13 = thalassemia trait.

3. Iron studies if need further information.

a. Serum iron: decreased.

b. Total iron-binding capacity: increased.

c. Ferritin: decreased.

d. Percentage of iron saturation: decreased.

G. Differential diagnosis.


Lead poisoning, 984.9

Sideroblastic anemia, 285

Thalassemia, 282.49


1. Thalassemia trait.

2. Lead poisoning.

3. Chronic infection.

4. Sideroblastic anemia.

Table 32-1 Maximum Hemoglobin Concentration and Hematocrit Values for Iron-Deficiency Anemia


Source: Adapted from Centers for Disease Control and Prevention. (1998, April 3). Recommendations to prevent and control iron defi ciency in the United States. Morbidity and Mortality Weekly Report, 47(RR-3), 1-36.

H. Treatment.

1. Nutritional strategies.

2. Reduce milk to no more than 16-24 oz/day.

a. Increase intake of high-iron foods (e.g., beans, whole cereals, dried fruit, pork, beef).

b. Iron therapy for infants and children:

•  Ferrous sulfate.

i. Mild to moderate iron deficiency: elemental iron 3 mg/kg/day in 1-2 divided doses.

ii. Severe iron deficiency: elemental iron 4-6 mg/kg/day in 3 divided doses.

I. Follow up.

1. Recheck hemoglobin in 1 month.

2. Treat until hemoglobin and hematocrit reach normal ranges. Then give at least 1 month additional treatment to replenish iron stores.

3. If response not adequate within 1-2 months, consider further diagnostic testing for GI bleeding or other microcytic hypochromic anemias.

J. Complications.


Anemia, 280.9

Developmental delays, 783.4

Behavioral delays, 312.9

Poor growth, 253.2


1. Result from long-standing iron-deficiency anemia.

a. Increased susceptibility to infection.

b. Poor growth.

c. Developmental delays (lower mental and motor test scores).

d. Behavioral delays.

K. Education.

1. Need for balanced diets and foods containing iron.

a. Cereal, egg yolks, green/yellow vegetables, yellow fruits, red meat, potatoes, tomatoes, raisins.

2. Amount of milk necessary/day (age dependent).

3. Information about iron medications:

a. Give after meals with orange juice to enhance absorption.

b. Do not give with milk (inhibits absorption of iron).

c. Give with straw or brush teeth after giving (may stain teeth).

d. May cause abdominal discomfort, constipation, black stools.

e. Extremely poisonous if taken in excessive amounts.

f. Keep out of reach of small children.


A. An inherited anemia that can affect both males and females and can be mild or severe. Hemoglobin has two types of protein chains, alpha globin and beta globin, which are needed to properly form the red blood cell and allow it to then carry enough oxygen. Therefore one can have either an alpha thalassemia or a beta thalassemia. It occurs most often in people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe form is usually diagnosed in early childhood and is a lifelong condition.

B. Etiology.

1. Alpha thalassemia: need 4 genes (2 from each parent) to make enough alpha protein chains, located on chromosome 16.

a. Mild anemia.

• One missing gene, silent carrier, no symptoms.

• Two missing genes—carrier and mild anemia.

b. Moderate to severe anemia.

• Three missing genes—hemoglobin H disease.

• Four missing genes—alpha thalassemia major or hydrops fetalis.

2. Beta thalassemia—need 2 genes (one from each parent) to make enough beta globin protein—located on chromosome 11.

a. Mild anemia.

• One missing or altered gene—carrier status.

b. Moderate or severe anemia.

• Two missing or altered genes.

i. Beta thalassemia intermedia—moderate anemia.

ii. Beta thalassemia major—Cooley's anemia, severe.

C. Occurrence.

1. Family history and ancestry are the two risk factors.

a. Alpha thalassemias most often affect ancestry origin of Indian, Chinese, Filipino, or Southeast Asian.

b. Beta thalassemias most often affect ancestry origin of Mediterranean (Greek, Italian, Middle Eastern), Asian, or African.

D. Clinical manifestations.

1. No symptoms if a silent carrier as in alpha thalassemia.

2. May or may not have symptoms with mild anemia—usually fatigue—most often mistaken for IDA.

3. More severe symptoms with moderate anemia that may include slowed growth and development and physical problems with bones and the spleen.

4. Symptoms of severe anemia due to thalassemias occur during the first 2 years of life and include other serious health problems besides the severe anemia.

E. Physical findings.

1. Mild anemia—normal physical exam.

2. More severe anemia.

a. Pale and listless appearance.

b. Poor appetite.

c. Dark urine.

d. Jaundice.

e. Enlarged spleen, liver, and heart.

f. Bone problems, especially the bones of the face.

g. Delayed puberty.

h. Slowed growth.

F. Diagnostic tests.

1. CBC with differential.

2. Iron tests—to rule out IDA.

3. Hemoglobin tests.

4. Genetic studies.

G. Differential diagnosis.

1. IDA.

2. Other anemias.

H. Treatment.

1. Mild forms need no treatment.

2. Moderate to severe forms.

a. Regular blood transfusions—RBCs live 120 days so may need transfusions for severe anemia every 2 to 4 weeks.

b. Iron chelation therapy—transfusions can lead to a build up of iron in the blood.

• Deferoxamine—liquid given slowly under the skin with a pump; takes time and is often painful and side effects include loss of vision and hearing.

• Deferasirox—pill taken once a day; side effects include headache, nausea, vomiting, diarrhea, joint pain, and fatigue.

c. Folic acid supplements—a B vitamin that helps build healthy RBCs.

d. Bone marrow/stem cell transplant—only cure for thalassemia.

I. Follow up.

1. Well-child physical as indicated.

2. Vaccines as scheduled.

3. Follow with hematology physicians on routine basis.

J. Complications.

1. Heart disease—caused by iron overload from the transfusions.

2. Heart attack.

3. Arrhythmias.

4. Heart failure.

5. Liver disease—also caused by iron overload and damage to the organ.

6. Infection—risk of infection higher in persons whose spleen has been removed.

7. Osteoporosis.

K. Education.

1. Follow the treatment plan as outlined by the doctor/clinic.

a. Blood transfusions as needed.

b. Chelation medications to be taken as prescribed.

c. Take your folic acid supplements.

2. Routine maintenance.

a. Yearly well child checks (WCC).

• Height and weight.

• Test for iron build up in the liver.

• Vision and hearing tests.

b. Monthly CBCs.

c. Quarterly tests for iron build up in the blood.

3. Measures to stay healthy.

a. Healthy eating.

b. Vaccinations as scheduled.

c. Watch for signs of infection.

d. Wash hands.

e. Avoid crowds during cold and flu season.

f. Call clinic/doctor if develop fever.

4. Support groups—parents and children.



Headache, 784

Poor attention span, 314


Irritability, 799

Seizures, 780.39


Lead poisoning, 984.9

Sleep disorders, 780.5


Loss of visual motor coordination, 781.3

Stomachache, 789


Muscular weakness, 728.87

Tiredness, 780.79


Poor appetite, 783

Weight loss, 783.2


A. Most common, widespread environmental health concern, especially for children younger than 6 years of age. Can cause decrease in gestational weight and age; may increase possibility of stillbirths and miscarriages.

B. Etiology.

1. Increased lead levels in children occur by exposure to deteriorating paint, household dust, bare soil, air, drinking water, food, ceramics, home remedies, hair dyes, other cosmetics. Usually exposure is in child's own home.

2. Manufacture, use, disposal of modern products containing lead results in fine lead particles that release into environment. Lead particles enter air, water, food; also contaminate soil, dust.

3. Lead containing toys, crayons, soft vinyl lunch boxes.

C. Occurrence.

1. Estimated at least 400,000 children younger than 6 years of age have too much lead in their bodies.

2. Questions for assessing risk of lead poisoning:

a. Live in, regularly visit, or have lived in a place with peeling or chipping paint built before 1960?

• Includes daycare, preschools, homes of babysitters, relatives.

• Houses with recent, ongoing, planned renovation or remodeling.

b. Brother or sister, housemate, playmate being followed or treated for lead poisoning (blood level > 15 mcg/dL)?

c. Live with adult whose job or hobby involves exposure to lead?

• Ceramics, furniture refinishing; stained glass work; construction workers.

d. Taking home remedies such as azarcon and greta?

e. Live near active smelter, battery-recycling plant, other industry likely to release lead into air?

3. Lead toxicity is decreasing in the United States but approximately 25% of children still live in housing with deteriorating lead-based paint.

D. Clinical manifestations.

1. Many symptoms resemble common childhood complaints: headache, stomachache, irritability, tiredness, poor appetite.

2. Other subtle symptoms: poor attention span and memory, sleep disorders.

3. All of these can lead to coma and death because not noticed until brain damage has already occurred. Once organ systems are damaged, damage often irreversible.

E. Physical findings.

1. Weight loss, decreased growth.

2. Muscular weakness (diminished reflexes).

3. Seizures (signs of anemia).

4. Loss of visual motor coordination.

5. Irritability.

6. Constipation, abdominal pain.

7. Learning difficulties/cognitive impairment.

F. Diagnostic tests.

1. CBC.

2. Lead blood levels: < 10 mcg/dL. Screening tests as recommended by Centers for Disease Control and Prevention (CDC) (Table 32-2).

3. Free erythrocyte protoporphyrin (FEP): elevated.

Table 32-2 CDC Recommendations for Follow-Up Lead Blood Level Measurements


Blood lead level



≤ 9 mcg/dL

Not lead poisoned


Low risk: 6–35 months of age, retest at 24 months


High risk: 6–35 months of age, retest every 6 months


Older than 36 months of age: retest yearly until 6 years of age



10–14 mcg/dL

Rescreen frequently and consider prevention activities 6–35 months of age, retest every 3–4 months


Older than 36 months of age, retest yearly



15–19 mcg/dL

Institute nutritional and educational interventions


Retest every 3–4 months



20–44 mcg/dL

Evaluate environment and consider chelation therapy


Retest every 3–4 months



45–69 mcg/dL

Institute environmental intervention and chelation therapy within 48 hours



< 70 mcg/dL

Medical emergency; requires immediate treatment


Source: Data from Centers for Disease Control and Prevention. Recommendations for follow-up lead blood level measurements. Retrieved March 2004, from:; Cohen, S. (2001). Lead poisoning: A summary of treatment and prevention. Pediatric Nursing, 27, 125.

G. Differential diagnosis.


Abdominal pain, unspecifi ed, 789

Iron-deficiency anemia, 280.9


Behavioral disorders, 312.9

Unexplained seizures, 780.39


1. Neurologic problems (unexplained seizures, behavioral disorders).

2. IDA.

3. Unexplained abdominal pain.

H. Treatment.

1. Lead blood level determines treatment (Table 32-2).

2. Alteration in environment; stop unusual exposure to lead.

3. Good nutrition.

4. Chelation therapy.

a. British anti-Lewisite (BAL).

b. Edetate calcium disodium (CaNa2EDTA).

c. Dimercaptosuccinic acid (DMSA) or Succimer.

d. D-Penicillamine.

I. Follow up.

1. Follow recommendations in Table 32-2 for rescreening. Treatment time is lengthy: There will be rebound levels as stored lead releases from bones and teeth.

2. After chelation therapy: Obtain another blood lead level in 10-14 days.

3. Blood lead level determines subsequent treatment.

J. Complications.


Coma, 780.01

Learning disabilities, 315.2


Diminished fertility, 628.9

Lower sperm counts, 792.2


Elevated BUN, 790.6

Mental retardation, 319


Headache, 784

Persistent vomiting, 536.2


Hearing loss, 389.9

Seizures, 780.39


Hypertension, 401.9

Sterility, female, 628.9


Impaired growth, 253.2

Sterility, male, 606.9


Kidney diseases, 593.9

Toxicity, 323.7


Lead encephalopathy, 984.7


1. Lead encephalopathy and toxicity:

a. Headache, persistent vomiting.

b. Seizures, coma, death.

c. Mental retardation, learning disabilities.

d. Impaired growth.

e. Hearing loss.

2. Renal disorders: hypertension, kidney diseases (later in life), elevated blood urea nitrogen (BUN).

3. Reproductive system:

a. Diminished fertility, abnormal sperm and lower counts, sterility–male and female.

b. Increased chance of miscarriage.

K. Education.

1. Prevention.

2. Advice for families:

a. If suspect exposure, test child.

b. Use caution when purchasing older home.

c. Maintenance to keep old lead-based paint intact.

d. Watch for lead dust when doing home improvement projects: Protect furniture from lead dust, wet mop work area after projects using detergent.

e. Wash work clothes separately from family's clothing.

f. Encourage children to play in sand, grass rather than dirt.

g. Wash hands, pacifiers before naps, bedtime.

h. Avoid folk remedies or cosmetics containing lead.

i. Test water supply for lead.

j. Wash fruits, vegetables before eating.

k. Eat healthy diet rich in iron: helps body to absorb less lead.

l. Use only cold water from tap for drinking, cooking, making baby formula. Hot water more likely to contain higher levels of lead.



Abdominal pain, unspecified, 789

Hepatitis C, 070.51


Angina, 413.9

Hepatitis D, 070.52


Aplastic crisis, 284.9

Hepatitis E, 070.53


Cardiomyopathy, 425.4

Increased lethargy, 780.79


Cerebral vascular accident, 436

Irritability, 799.2


Chest syndrome, acute, 517.3

Leg ulcerations, 707.1


Chronic hemolytic anemia, 282.9

Maxillary hyperplasia, 524.01


Cytomegalovirus, 078.5

Meningitis, 322.9


Dehydration, 276.5

Ocular retinopathy, 362.1


Delayed puberty, 259

Orthopnea, 786.02


Dental malocclusion, 534.9

Pallor, 782.61


Dyspnea, 786.09

Pallor/jaundiced skin, 782.61


Emesis, recurrent, 787.03

Persistent headaches, 784


Emotional stress, 308

Pneumonia, 486


Exercise intolerance, V47.2

Priapism, 607.3


Fatigue, 780.79

Pulmonary fi brosis, 515


Fever, 780.6

Sickle cell disease, 282.6


Gallbladder disease, 575.9

Splenomegaly, 789.2


Hemolytic anemia, 282.9

Tachycardia, 785


Hemolytic crisis, 283.9

Tightness in chest, 786.59


Hemoptysis, 786.3

Urinary tract infection, 599


Hepatitis A, 070.1

Visual/speech changes, 784.49


Hepatitis B, 070.3

Weakness/numbness in extremities, 780.79


A. Group of inherited heme disorders characterized by sickle hemoglobin (HbS); several variants within sickle cell disease. This section aimed at variant that results when one is homozygous for HbS, sometimes referred to as sickle cell anemia (HbSS).

B. Etiology.

1. Due to single defective hemoglobin module inherited as gene from both parents (autosomal-recessive disorder).

2. Abnormal HbS is produced instead of HbA, normal hemoglobin.

3. The abnormal hemoglobin S, when deoxygenated, deforms red cells into sickle shapes that occlude small vessels, slowing blood flow, creating vaso-occlusive crises in blood vessels and in organs such as spleen.

C. Occurrence.

1. Predominantly in African Americans with about 1 in 400 African Americans affected.

2. Mediterranean or Arabic descendants also found to have sickle cell anemia, but in fewer numbers.

D. Clinical manifestations.

1. Chronic hemolytic anemia (aplastic crisis, hemolytic crisis, sequestration crisis).

2. Vaso-occlusion resulting in ischemia to tissues.

a. Painful crisis: from infarcts of muscle, bone, bone marrow, lung, intestines.

b. Cerebrovascular accident.

c. Acute chest syndrome.

d. Chronic lung disease such as pulmonary fibrosis.

e. Priapism.

f. Ocular retinopathy.

g. Gallbladder disease.

h. Renal.

i. Cardiomyopathy.

j. Leg ulcerations.

3. Susceptibility to infection.

4. Growth failure, delayed puberty.

5. Psychologic problems (narcotic addiction, chronic illness, unusual dependence).

E. Physical findings.

1. Depends on which clinical manifestation is presenting.

2. Chronic hemolytic anemia: pallor/jaundiced skin, tachycardia, fatigue.

3. Susceptibility to infection: fever, other symptoms related to causative organism or system infected: e.g., meningitis; urinary tract infection (UTI); cytomegalovirus (CMV); hepatitis A, B, C, D, E; pneumonia.

4. Vaso-occlusive crisis: again depends on location of occlusion.

5. Splenomegaly.

6. Maxillary hyperplasia and dental malocclusion result from compensatory bone marrow expansion.

F. Diagnostic tests.

1. Newborn screening for hemoglobinopathies. Electrophoresis on cellulose acetate indicates type of hemoglobin: fetal (F), normal adult (A), sickle (S), hemoglobin C (C).

2. Repeat testing with abnormal hemoglobin (FS) pattern on newborn screen.

3. CBC with hemoglobin MCV.

G. Differential diagnosis.


Beta thalassemia anemia, 282.49

Sickle cell disease, 282.6


1. Sickle cell trait (benign), beta-thalassemia anemia.

H. Treatment.

1. Preventive care.

a. Education of the family.

• Adequate fluid intake.

• Immediate medical help for fevers.

• Importance of prophylactic treatment.

b. Immunizations per the schedule plus 23-valent pneumococcal vaccine at 2 and 5 years.

2. Pharmaceutical therapies.

a. Penicillin prophylaxis:

• 2 months to 3 years of age: Penicillin VK 125 mg PO bid.

• 3 years to 5+ years of age: Penicillin VK 250 mg PO bid.

b. Alternative to penicillin: erythromycin (EES) 20 mg/kg/day divided bid.

c. Folic acid: 1 mg/day.

d. Multivitamin once daily.

e. Hydroxyurea drug therapy.

• Anti-sickling effect of hydroxyurea can decrease frequency of vaso-occlusive crises.

• Starting dose: 15 mg/kg/day, increase gradually by 5 mg/kg/day while monitoring for toxicity.

• Toxicity manifested by falls in neutrophil count to <2500/mm3 or platelet count <80,000/mm3.

f. Pain medications: acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) (mild pain), acetaminophen with codeine (moderate pain), morphine (severe pain).

I. Follow up.

1. Routine well-child checks:

a. Birth to 6 months: every 2 months, CBC every visit.

b. 6 months to 2 years: every 3 months.

• CBC every 3–6 months.

• Urinalysis (UA) annually.

• Ferritin or serum iron and total iron-binding capacity (TIBC) once at 1-2 years of age.

• BUN, creatinine, liver function tests (LFTs) once at 1-2 years of age.

• Influenza vaccine annually.

• Start folic acid daily at 1 year of age.

c. 2-5 years: visits every 6 months.

• CBC and UA at least yearly.

• BUN, creatinine, LFTs every 1-2 years.

• 23-valent pneumococcal vaccine at 2 years of age, with booster at 5 years.

• Hearing, vision, purified protein derivative (PPD) per standard practice.

d. Older than 5 years: visits every 6-12 months.

• CBC and UA at least annually.

• BUN, creatinine, LFTs every 2-3 years.

• Influenza vaccine yearly.

• Continue folic acid.

• May opt to stop penicillin V.

e. Adolescent: yearly visits.

• CBC and UA yearly.

• BUN, creatinine, LFTs every 2-3 years.

• Ferritin or serum iron and TIBC at least once.

• Hearing, vision, PPD as per standard practice.

• Influenza vaccine yearly.

2. Close monitoring by family for complications.

J. Complications.


Acute chest syndrome, 517.3

Priapism, 607.3


Anemia, 285.9

Renal dysfunction, 593.9


Aplastic crisis, 284.9

Renal failure, 586


Avascular necrosis of hips, 733.42

Retinal detachment, 361.9


Chronic lung disease, 518.89

Retinopathy, 362.1


Febrile events, 780.6

Splenic sequestration, 289.52


Gallstones, 574.2

Stroke, 436


Hemolysis, 283.9

Vaso-occlusive events, 459.9


Leg ulcers, 707.1


1. Acute and chronic complications (hemolysis, anemia, gallstones) need early recognition, prompt treatment to reduce morbidity and mortality.

2. Acute events:

a. Painful vaso-occlusive events.

b. Febrile events.

c. Acute chest syndrome.

d. Splenic sequestration.

e. Stroke.

f. Aplastic crisis.

3. Chronic events:

a. Avascular necrosis of hips/shoulders.

b. Priapism.

c. Chronic lung disease.

d. Leg ulcers.

e. Renal dysfunction or renal failure.

f. Retinopathy and retinal detachment.

K. Education.

1. When family/patient should seek immediate medical care:

a. Fevers or persistent low-grade fever.

b. Pain unrelieved by prescribed oral medications.

c. Persistent abdominal pain, recurrent emesis.

d. Dyspnea, pain with breathing, hemoptysis, or feelings of tightness in chest.

e. Angina, exercise intolerance, or orthopnea.

f. Visual/speech changes, weakness/numbness in extremities, persistent headaches.

g. Sustained penile erections unrelieved by prescribed medications.

h. Increased lethargy, irritability, or pallor.

2. Factors that may precipitate painful vaso-occlusive crises:

a. Inadequate rest, emotional stress, fatigue.

b. Vasoconstrictive drugs, smoking, constrictive clothing.

c. Dehydration, strenuous physical exercise.

d. Extreme hot/cold temperatures, high altitudes, unpressurized aircraft.


A. Usually bruising and bleeding are a part of active childhood. Bruises on the knees and shins and nose bleeds can simply be a fact of life. They become a health problem when the bleeding is hard to control or the bruising is in areas of the body that one does not normally hit, e.g., the back or stomach. Also, in adolescence, heavy menses could be the norm for many girls or it could signal a bleeding problem. The provider needs to decide when further studies would differentiate pathological or nonpathological causes of the bleeding and bruising. Normal clotting involves some 20 clotting factors that work together along with some other chemicals to form a substance called fibrin that leads to a clot.

B. Etiology.

1. Platelets or clotting factors do not work in the right way.

2. Supply of specified clotting factors are deficient.

3. Physical abuse.

4. Vitamin K deficiency.

C. Occurrence.

1. Congenital.

a. Hemophilia A or B–about 400 newborns a year are diagnosed in the U.S.

• X-linked recessive pattern of inheritance.

• Deficiencies in factor VIII (hemophilia A) and factor IX (hemophilia B).

• Males exclusively affected, some very rare cases of females with hemophilia.

b. von Willebrand–affects 66-100 people/1 million of the population.

• Autosomal inheritance with variable phenotypic expression.

• Common in both men and women.

• Deficiency in the von Willebrand clotting factor.

i. Blood protein that affects platelet function.

ii. Is a critical link between platelets and exposed vascular subendothelium.

iii. Binds and stabilizes coagulation factor VIII.

2. Acquired.

a. Acquired hemophilia.

• Rare condition with no genetic inheritance.

• Autoimmune etiology that results in development of autoantibodies to coagulation factors.

b. Disseminated intravascular coagulation.

• Acquired syndrome that activates the coagulation pathway.

• Results in intravascular thrombi and depletion of platelets and coagulation factors.

c. Idiopathic thrombocytopenic purpura.

• Characterized by thrombocytopenia (platelet count less than 150,000/mcL) in the absence of other causes.

• Thought to be secondary to an autoimmune phenomenon.

d. Henoch-Schönlein purpura.

• Results from autoimmune reaction where the body attacks its own tissues.

• Small, bluish purple spots on feet, legs, arms, and buttocks.

• Usually develops after respiratory infection but can occur after immunization, insect bite, or allergic reaction to drugs or food.

• Rate at which disease develops and its duration vary.

D. Clinical manifestations.

1. Excessive bruising or bleeding.

2. Bleeding history.

a. Location, duration, frequency, precipitating factors.

b. What does it take to stop the bleeding?

c. Reactions to injections, lacerations, toothbrushing, menstruation (as applicable).

d. Medications taken that may increase tendency to bleed.

e. Family history of unexpected or severe bleeding (surgery, childbirth, dental procedures).

f. Consideration of abuse.

E. Physical findings—dependent upon site of bleeding and age of the child.

1. Epistaxis—unilateral or bilateral—bleeding longer than 15 minutes.

2. Menorrhagia—menses longer than 7 days, double pads, lightheadedness.

3. Ecchymosis—where, clusters or not, especially in areas that are anatomically protected.

4. Skin and mucous membrane bleeding—generalized petechial rash, subcutaneous hemorrhagic nodules, submucosal hemorrhages of the mouth.

5. Spontaneous hemarthrosis—joints affected, amount of swelling/pain, limited range of motion.

6. Intracranial bleeding in absence of elicited history of trauma—headache, nausea.

7. Hepatosplenomegaly.

8. Hematuria.

9. Gastrointestional cramping/pain.

F. Diagnostic tests.

1. Initial lab screening.

a. CBC with differential and platelets.

b. Prothrombin time (PT).

c. Activated partial thromboplastin time (aPTT; see Table 32-3).

2. Secondary lab screening.

a. PT/aPTT mixing studies.

b. von Willebrand panel.

c. von Willebrand antigen.

d. Factor VIII activity.

e. Platelet function testing.

f. Bleeding time.

g. PFA-100.

h. Platelet aggregation studies.

G. Differential diagnosis.

1. Child abuse.

2. Leukemia.

3. Hemophilia.

4. von Willebrand's disease.

5. Idiopathic thrombocytopenia purpura.

6. Thrombocytopenia.

7. Henoch-Schönlein purpura.

Table 32-3 Common Causes of Prolonged PT/aPTT


Common/Important Causes


Prolonged PT

Vitamin K deficiency

Isolated PT elevation is sensitive marker early in DIC development


Liver disease




Factor VII deficiency




Prolonged aPTT


Hemophilia (FVIII, FIX or FXI defi ciency)

Rare deficiencies of factor XII, HMWK, or PK may also elevate aPTT, but are not clinically significant



Antiphospholipid antibodies (associated with minor infections or, rarely, autoimmune thromboembolic disease)

Half of children with prolonged aPTT do not have a bleeding disorder

Prolonged PT and aPTT



Liver disease


Fibrinogen measurement can help distinguish among liver disease and DIC (decrease in fibrinogen) and vitamin K deficiency (no decrease in fi brinogen)




Factor II, V, or X deficiency


Underfilled specimen tube


Severe vitamin K deficiency


PT= prothrombin time

aPTT = activated partial thromboplastin time

DIC = disseminated intravascular coagulopathy

vWD = von Willebrand disease

HMWK = high-molecular-weight kininogen

PK = prekallikrein

Source: Savage, W., & Takemoto, C. (2009). Bleeding and bruising. Contemporary Pediatrics, 26(6), 66.

8. Acquired hemophilia—presence of inhibitory antibodies.

9. Scurvy.

10. Fabry disease.

11. Ehlers-Danlos syndrome.

12. Deficiency of other coagulation factors (V, VII, X, XI, or fibrinogen).

H. Treatment.

1. Dependent upon cause of bleeding or bruising and the site of the bleeding.

2. Referral to hematologist if deficient factors or platelet deficiency—chronic illness that needs to have specialist involved and be enrolled in a hemophilia treatment center.

a. Treatment is prevention of bleeding by replacement therapy.

b. Long-term management of joint and muscle damage.

c. Management of complications from treatment.

3. Corticosteroids if Henoch-Schönlein purpura.

4. Child protective services if suspected child abuse.

I. Follow up.

1. Well child checks and immunizations as recommended.

2. Good communication between specialist and primary care.

3. Action plan for family—see Education section that follows.

4. Regular dental care.

5. Support groups.

J. Complications.

1. School absence.

2. Joint deformities.

3. Intracranial hemorrhage.

4. Complications from therapies like corticosteroids.

K. Education.

1. Importance of finding and knowing correct diagnosis.

a. Untreated bleeding disorder leads to dangerous bleeding after childbirth, miscarriage, dental work, minor surgery, and injury.

2. Epistaxis.

a. Know procedure to control nosebleeds.

b. Know when to seek medical help.

c. Vaseline around and in the nares at bedtime.

d. Humidifier in bedroom to provide moisture.

3. Safety precautions with bleeding disorders to minimize long-term permanent damage to joints and muscles and the brain.

4. Importance of keeping regular checkups with primary care provider and the hematology provider if congenital/or acquired bleeding disorder.

5. Avoiding platelet-impairing medications such as aspirin and ibuprofen.

6. Limit alcohol as excessive intake, which can adversely affect blood clotting.

7. Exercise regularly.

8. Medic alert bracelet—if hemophilia, von Willebrand, platelet dysfunction.


Abelsohn AR, Sanborn M. Lead and children: Clinical management for family physicians. Canadian Family Physician. 2010;56:531-535.

Berkowitz CD. Berkowitz's pediatrics: A Primary care approach. 3rd ed. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

Burns CE, Brady MA, Dunn AM, et al., eds. Pediatric primary care, 4th ed. Philadelphia, PA: Elsevier Health Sciences; 2008.

Carter RC, et al. Iron deficiency anemia and cognitive function in infancy. Pediatrics. 126(2):e427-2434.

Center for Disease Control and Prevention. Prevention tips for lead; 2009. Retrieved July 1, 2011, from:

Committee on Environmental Health. Policy statement: Lead exposure in children: Prevention, detection, and management. Revision of June 1998 statement. Pediatrics. 2009;116(4):1036 -1046.

Eden AN, et al. Contemporary pediatrics: Your voice: Hidden toddler iron deficiency; 2009. Retrieved July 1, 2011, from:

Environmental Protection Agency. Lead in paint, dust and soil; 2010. Retrieved July 1, 2011, from:

Hay W, et al. Current diagnosis and treatment, pediatrics. 19th ed. New York: McGraw-Hill; 2009.

Janus J, & Moerschel SK. Evaluation of anemia in children. American Family Physician. 2010;81(12): 1462-1471.

Kleinman RE, ed. Pediatric nutrition handbook. 6th ed. Elk Grove Village, IL: American Academy of Pediatrics; 2009.

Kulp JL, Mwangi CN, Loveless M. Screening for coagulation disorders in adolescents with abnormal uterine bleeding. Journal of Pediatric Adolescent Gynecology. 2008;21:27.

Lissauer T, Clayden G, eds. Illustrated textbook of paediatrics. 3rd ed. Philadelphia, PA: Elsevier Health Sciences; 2007.

Marcdante K, Kliegman RM, & Behrman RE, eds. Nelson essentials of pediatrics. Philadelphia, PA: W.B. Saunders; 2010.

Mayo Clinic Staff. Lead poisoning; 2011. Retrieved July 1, 2011, from:

Merck Manual. Thrombocytopenia (ITP, TTP); 2008. Retrieved July 1, 2011, from:

Merck Manual. Henock-Schonlein purpura. Retrieved May 3, 2010, from:

National Institute of Health, National Heart, Lung, and Blood Institute. The management of sickle cell disease; 2004. Retrieved August 2, 2010, from:

National Institutes of Health, National Heart, Lung and Blood Institute. Thalassemias. Retrieved August 2, 2010, from:

National Institutes of Health: National Heart Lung and Blood Institute. Iron deficiency anemia. Retrieved August 2, 2010, from:

Savage W, & Takemota C. Bleeding and bruising in children: Formulating your response. Contemporary Pediatrics, 2009;6:61-68.

If you find an error or have any questions, please email us at Thank you!