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Hematologic Abnormality in a Young Soldier

 

Am Fam Physician. 2019 Aug 1;100(3):176-178.

A healthy 21-year-old male soldier stationed in Qatar presented with abdominal cramping that began two weeks prior. The pain, which he rated as a 7 out of 10, was brought on by eating. Although this resulted in him eating less to avoid the pain, he did not have significant weight loss. No foods in particular made his cramping worse. It was associated with nausea and watery diarrhea, which resolved one week prior. He did not have bloody stools, melena, night sweats, weakness, fevers, or chills. He had never had abdominal surgery, did not take any medications, and had no significant personal or family history. He had three similar episodes in the previous year, which occurred before his deployment to Qatar.

On physical examination, his vital signs were normal. His abdomen was mildly tender but the pain was nonfocal. Results of laboratory tests, including electrolyte and amylase measurements and liver function testing, were normal. Stool guaiac testing was negative. Findings on computed tomography of the abdomen and pelvis were normal. The complete blood count was significant for microcytic hypochromic anemia with hemoglobin (Hb), hematocrit, mean corpuscular volume, and mean corpuscular Hb concentration of 11.8 g per dL (118 g per L), 38.4%, 63 μm3 (63 fL), and 30.7 g per dL (307 g per L), respectively. The peripheral smear is shown in Figure 1.

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FIGURE 1


FIGURE 1

Question

Based on the patient's history, physical examination, and ancillary test findings, which one of the following is the most likely diagnosis?

A. Beta-thalassemia.

B. Celiac disease.

C. Gastric lymphoma.

D. Infectious mononucleosis.

E. Lead toxicity.

Discussion

The answer is A: beta-thalassemia, specifically the minor type. Beta-thalassemia is an inherited disorder that is the result of mutations of the beta-globin gene (HBB) on chromosome 11. Phenotypic variability is designated as minor, intermedia, or major. The minor type is a carrier state often discovered incidentally with a routine complete blood count. Beta-thalassemia is more common in people of Mediterranean, African, or Southeast Asian descent. It is characterized by microcytic hypochromic anemia. In addition, target cells, teardrop cells, and often coarse basophilic stippling can be seen on the peripheral blood smear. This patient's peripheral smear showed target cells and a single cell with basophilic stippling.

Diagnosis requires Hb electrophoresis or high-performance liquid chromatography demonstrating abnormal percentages of HbA, HbA2, and HbF. In

Address correspondence to Adam B. Howes, MD, at howesab@yahoo.com. Reprints are not available from the author.

Author disclosure: No relevant financial affiliations.

References

show all references

1. Karimi M, Cohan N, De Sanctis V, et al. Guidelines for diagnosis and management of beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014;31(7):583–596....

2. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5:11.

3. Haines D, Martin M, Carson S, et al.; Thalassemia Clinical Research Network. Pain in thalassaemia: the effects of age on pain frequency and severity. Br J Haematol. 2013;160(5):680–687.

4. Rubio-Tapia A, Hill ID, Kelly CP, et al. ACG clinical guidelines: diagnosis and management of celiac disease. Am J Gastroenterol. 2013;108(5):656–676.

5. Juárez-Salcedo LM, Sokol L, Chavez JC, et al. Primary gastric lymphoma, epidemiology, clinical diagnosis, and treatment. Cancer Control. 2018;25(1):1073274818778256.

6. Centers for Disease Control and Prevention. Epstein-Barr virus and infectious mononucleosis. Accessed June 6, 2019. https://www.cdc.gov/epstein-barr/index.html

7. Auwaerter PG. Infectious mononucleosis in middle age. JAMA. 1999;281(5):454–459.

8. Horwitz CA, Moulds J, Henle W, et al. Cold agglutinins in infectious mononucleosis and heterophil-antibody-negative mononucleosis-like syndromes. Blood. 1977;50(2):195–202.

9. Shiri R, Ansari M, Ranta M, et al. Lead poisoning and recurrent abdominal pain. Ind Health. 2007;45(3):494–496.

This series is coordinated by John E. Delzell Jr., MD, MSPH, Associate Medical Editor.

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