A 9 month-old white male was admitted for respiratory syncytial virus bronchiolitis with an oxygen need. He responded to bronchodilators and oxygen and was discharged after two days.
During the hospitalization it was noticed that his hemoglobin was 10.9 mg/dL and mean corpuscular volume (MCV) was 64 fL (both low) on his admission complete blood count (CBC).
He had been breast fed and had iron containing foods begun at 5 months of age. He was born at 39 weeks and had no otherproblems.
He had received regular medical care and was meeting growth and developmental milestones on time.
The family history was negative. The father was of Mediterrean ethnicity and the mother is of Northern European ethnicity.
The pertinent physical exam at discharge showed a healthy male in no respiratory distress with mild rhinorrhea. His lungs were clear. His conjunctiva and mucous membranes were normally colored.
The patient’s clinical course included being placed on supplemental iron at 2-3 mg/kg/day of elemental iron. He was seen 5 weeks later.
His parents stated that he had been taking his iron and the physician noted grey staining of his teeth consistent with iron intake.
His CBC showed improved hemoglobin of 12.0 mg/dl but he had a continued low MCV of 62 fL. A ferritin level at that time was also decreased at 15.3% and he also had a normal lead level.
A hemoglobin electrophereis was ordered and showed an elevated Hemoglobin A2 at 3.6% (normal 1.5-3.4%). The parents were then screened and his mother had a hemoglobin A2 of 2.9% and his father’s was 3.5%. His father’s MCV was also decreased at 80 fL.
The diagnosis of beta-thalassemia minor and continued iron deficiency were made. He was placed on continued iron therapy for 3 months and his iron defiency was resolved. The family received genetic counseling.
Anemia is a common problem in pediatrics. It is defined as “a lower than normal value for the related measurements of hemoglobin, hematocrit, and number of red blood cells”, usually 2 standard deviations below the normal for age. Normal hematological values change with age.
The most common type of anemia in childhood is iron deficiency comonly caused by inadequate stores (e.g. premature infant), inadequate intake (e.g. poor nutrition) or blood loss (e.g. menses).
Anemia screening is recommended at age 9-12 months, and adolescent males and females during routine health examinations. As iron deficiency is the most common cause, often a trial of therapeutic iron (2-6 mg/kg/day of elemental iron) is started and then a complete blood count is rechecked ~ 1 month later.
If iron deficiency is the cause then there should be an increase of 10-20 g/L. If not other causes must be sought.
Dr. Thomas B. Cooley, the head of Children’s Hospital in Detroit first described thalssemias in 1925, and beta-thalassemia major is often referred to as Cooley’s anemia.
Beta-thalassemias are caused by abnormalities of the beta-gene on chromosome 11. The beta-globin chain may be produced in small amounts or not at all.
It commonly occurs in southern Italy, Greece and also in the the Middle East, Asia and the Indian subcontinent.
Beta-thalassemia minor or trait usually causes a mild decrease in the total amount of beta-globin chain and has a mild anemia without symptoms.
There is often microcytosis, hypochromia, target cells, elliptocytes and basophyllic stippling. The MCV is almost always below 75 fL, and the mean is 68 fL. The red cell distribution width is normal and Hemoglobin F levels are normal.
Iron deficiency anemia is often confused or occurs along with beta-thalassemia as both have microcytosis and hypochromia. The Mentzer index (MCV/RBC) is usually >12 in iron deficiency and <11 in thalassemia.
It is important to establish the diagnosis to avoid unnecessary treatment with iron and for genetic counseling. Prenatal screening is available to high risk populations or families.
Beta-thalassemia trait is commonly identified after an abnormal screening CBC does not show improvement despite adequate iron therapy.
Other causes of non-correcting anemias include:
- Iron supplements not being taken
- Severely depleted iron stores
- Ongoing blood loss (e.g. hookworm, peptic ulcer disease, urinary or gastrointestinal tract loss, intravascular hemolysis, etc.)
- Abnormal absorption (e.g histamine-2-blocks, gastric acid pump inhibitors, inflammatory bowel disease, etc.)
Questions for Further Discussion
1. How are the recommendations from the Centers for Disease Control different than from the American Academy of Pediatrics for anemia screening?
2. Is newborn screening for thalassemia done in the United States?
3. What other nutritional deficiencies present as anemia?
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Information prescriptions for patients can be found at Pediatric Common Questions, Quick Answers for this topic: Anemia.
To view current news articles on this topic check Google News.
Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:1523-28, 1536-1539.
Green M. Palfrey JS, Clark EM, Anastasi JM, eds. 2000. Bright Futures Guidelines for Health Supervision of Infants, Children, and Adolescents. 2nd Edit. Pocket Guide. Arlington, VA: National Center for Education in Maternal and Child Health.
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effecively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
5. Patients and their families are counseled and educated.
9. Patient-focused case is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.
24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.
25. Quality patient care and assisting patients in dealing with system complexities is advocated.
Donna M. D’Alessandro, MD
Associate Professor of Pediatrics, Children’s Hospital of Iowa
December 19, 2005