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A 3 5-year-old male immigrant from Ghana presen ts for further evaluation of abnormal complete blood count obtai ned for health screening. Patient reports feeling well. Phys-ical examination reveals minimal splenomegaly. Laboratory workup shows hemoglobin of 1 3 .2 g/dl, red cel l count ( RBC) of LJ .S mill ion/,LLL, mean corpuscular vol ume (MCV) of 7LJ fl, leukocyte count of 6,200/,LLL, and platelet count of 2 78,000/,LLL. Total bil i rubin is min imally elevated at 1 .6 mg/dl with a direct componen t of 0.3 mg/dl. Hemoglobin electrophoresis reveals no evidence of HbA and elevated HbF at 6%. Peripheral blood smear is shown below.
What is the most likely diagnosis?
- Beta-thalassemia minor
- Alpha-thalassemia trait
- Hemoglobin C disease (homozygous, HbCC)
- Hemoglobin E disease (homozygous, HbEE)
- Hemoglobin C trait (heterozygous, HbAC)
Medicine
C. Clinical presentation depicts an immigrant from West Africa presenting with minimal anemia, microcytosis, and evidence of hemolysis. Peripheral blood smear reveals evidence of codocytes (target-shaped RBCs) in addition to RBC with an uneven distribution ofhemoglobin toward one portion of RBC (hemoglobin crystals). Hemoglobin electrophoresis reveals the presence of HbC (94%) and absence ofHbA, with increased HbF levels. This is the classical presentation ofHbC disease (HbCC). Hemoglobin beta chain mutation resulting in HbC is common in West Africa. Individuals with HbC trait (HbAC) are phenotypically normal, while those with HbC disease (HbCC) usually exhibit mild, compensated hemolytic anemia, splenomegaly, target RBCs, and HbC crystals that are formed secondary to decreased HbC solubility hemoglobin E disease and trait are common in popula-tions of southeast Asia. (Blood. 1985;66(4):775, Blood. 2000;96(7):2358).
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