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Images in Clinical Medicine
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Volume 350:e24 June 24, 2004 Number 26
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Homozygous Hemoglobin C Disease

 

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A Ghanaian child was found on routine screening to have a hemoglobin level of 9.0 g per deciliter, a hematocrit of 24.3 percent, a mean corpuscular volume of 53.8 µm3, a red-cell distribution width of 28.8 percent, and an uncorrected reticulocyte count of 1.6 percent. There were no signs of splenomegaly. Testing of the father, who was asymptomatic, revealed only hemoglobin C on electrophoresis and a complete blood count similar to that of the child. A blood smear showed a constellation of findings that were characteristic of homozygous hemoglobin C disease: target cells (arrows), microspherocytes (arrowheads), rod-shaped cells containing hemoglobin C crystals (asterisk), anisocytosis, and poikilocytosis. The child is now healthy and asymptomatic.

Homozygous hemoglobin C disease is generally a benign condition associated with mild hemolytic anemia and splenomegaly. In terms of geographic distribution, the hemoglobin C allele is found at the highest frequencies in West Africa, where it has been associated with protection against malaria.

 

Rick M. Fairhurst, M.D., Ph.D.
National Institute of Allergy and Infectious Diseases
Bethesda, MD 20892


James F. Casella, M.D.
Johns Hopkins University School of Medicine
Baltimore, MD 21205


Related Letters:

Hemoglobin C Disease
Schwab J. G., Abelson H. T., Fairhurst R. M., Casella J. F.
Extract | Full Text | PDF  
N Engl J Med 2004; 351:1577, Oct 7, 2004. Correspondence

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